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AEI currently utilizes a RIEGL VZ400 Terrestrial Laser Scanner on various job sites.  This proecss utilizes a high accuracy 3D terrestrial LiDAR unit.  The data collected will be brought into a feature extraction software, TopoDOT.  TopoDOT utilizes a variety of tools to identify adn quickly extrapolate features within pointcloud data.  All features can then be imported into an AutoCAD drawing file.  AEI can provide an accurate 3D pointcloud of terrain plus any existing building or structures.  The pointcloud can also be converted for Building Information Models.

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Allen Engineering is involved with the civil design and surveying for the new park in Palm Bay, Flordia.  This Regional Park will feature 150 full service campsite hookups and is scheduled to break ground in 2018.  We are extremely proud to be involved in this project.

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Allen Engineering is beginning its 21st year associated with the Space Coast Post of the Society of American Military Engineers (SAME).  During our 21 years, we have helped raise over $350,000 in scholarships and endowments.  We are extremely proud to be associated with SAME and its continued commitment to offer opportunities for students pursuing careers in the engineering field.

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First treatment zinc toxicity cheap seroquel 300mg on-line, the child may be shown the dolls clothed and asked to symptoms 4dp5dt fet 300 mg seroquel with visa identify a doll that represents herself and one that represents the alleged abuser medicine 627 buy 300 mg seroquel with visa. Second medications made easy purchase 300mg seroquel with visa, the child may be asked to undress the dolls representing herself and the alleged abuser, inspect them, and name the private parts of the dolls using her own terms. Third, the child may be invited to enact with the dolls the abusive events that occurred between herself and the abuser. Once the child has given a spontaneous general account of the abuse, information about specific details should be obtained. With younger children it is important to ask for this information in terms of yardsticks that are meaningful to the child. Most abused children have been threatened that disclosure will be punished, and so it is not unusual for children to show signs of fear and ask the interviewer not to tell anyone about the abuse. There is also a temptation to cuddle children when they look fearful and distressed. This should be avoided, because physical cuddling may have sexual connotations for a sexually abused child. Because of the stressful nature of disclosure, periods of questioning may be interspersed with periods of free play. Therefore it may be useful to have other play materials available in the interviewing room. At the end of the disclosure interview or interviews, it is important for the child and the non-abusing parent to meet with the interviewer and for the interviewer to summarise the information the child disclosed. This handover meeting marks the beginning of helping the non-abusing parent develop a protective relationship with the child. The non-abusing parent will be torn between disbelief and the wish to protect the child, and so this meeting is stressful for the parent. If at the end of this meeting, the non-abusing parent can agree to protect the child, then a member of the professional network, ideally a law-enforcement officer, should confront the abuser before the child and the non-abusing parent have had time to meet with the alleged abuser. This is important, since the alleged abuser may intimidate and coerce the child and the nonabusing parent into retracting the allegations of abuse. Ideally the abuser should move out of the home under a court-ordered injunction, until the assessment is completed and sufficient progress has been made in subsequent therapy for it to be safe for the abuser to have unsupervised access to the child. It is important that the foster parents or childcare key worker for the abused child meet with the child, the non-abusing parent and the interviewer for a handover meeting, in which the interviewer explains the allegations and the reason for the out-of-home placement in front of the child and the non-abusing parent. In these instances, the child can return home after a brief out-of-home placement. The importance of planning and co-ordination within the professional network prior to conducting a disclosure interview or series of interviews is critical for maximising the protection of the child. Failure to set up an emergency out-of-home placement for use in case the non-abusing parent cannot protect the child, or failure to arrange for a law-enforcement officer to be available to confront the abuser after the disclosure interview, may lead to situations where the child is exposed to further intimidation, coercion and ultimately more severe abuse. Other aspects of the assessment of the child A full physical and medical forensic examination of the child should be conducted as part of a comprehensive assessment following guidelines for good practice (Independent Second Opinion Panel, 1988; Department of Health, 1987). Parents and teachers may be asked to complete both the Child Behaviour Checklist (Achenbach, 1991) and the Child Sexual Behaviour Inventory (Friedrich et al. Evaluation of the non-abusing parents Individual interviews with non-abusing parents and conjoint interviews with the non-abusing parent and the abused child should be conducted to assess their capacity to protect the child. In some instances, psychological assessment of specific parental characteristics. Others favour family confrontation sessions, in which the abused child, supported by the whole family, confronts the abuser. Whatever method is used, the aim of this procedure is to determine the openness of the abuser to giving up denial and to do this without unduly distressing the abused child. Abusers engage in denial because giving it up may entail leaving the family home; prosecution; social stigmatisation and personal admission of guilt. It is important to empathise with the alleged abuser about his reasons for engaging in denial, and to preface this with the statistic that in less than 10 per cent of cases do children make false allegations (Jones and McGraw, 1987). Furniss (1991) has developed a hypothetical interviewing style that he uses in family interviews where one or both parents deny the abuse. He explores who within the family is best and worst at bottling up secrets (such as birthday surprises). In addition to assessing level of denial, risk factors associated with motivation to abuse and ways of overcoming internal and external inhibitions, discussed earlier, should also be assessed. Where perpetrators admit to abuse, they should be helped to reconstruct a model of the abusive cycle. Personal resources and problems, particularly a history of personal abuse and parenting skills and deficits, should be evaluated. Evaluation of marital couple Conjoint interviews with the parents of the abused child may be used to asses the quality of their relationship. In cases of parent-child incest, the evaluation of the marital couple must address the degree to which the non-abusing parent can confront the denial of the abusing parent, and the degree to which the non-abusing parent is dependent upon the abusing parent. For eventual partial or complete family reunification, the non-abusing parent must be able to confront the abusing parent; ask him to leave the house; and then later decide whether to work towards permanent separation or family reunification, whichever is the preferable option. To be able to follow this route there must be sufficient differentiation within the marriage, at the time of disclosure, for the non-abusing parent to be able to confront the abuser. In cases of extrafamilial abuse, the evaluation of the marital couple focuses on the degree to which parents can work together in supporting the abused child. Evaluation of the siblings Interviews with the siblings should focus on the possibility that they may also have been abused. In addition, they may have information about risk factors, events surrounding the abusive episodes, and other important aspects of family life. Evaluation of the role of the extended family Interviews with other members of the nuclear and extended family may be conducted to assess their acceptance or denial of the abuse, their perception of risk factors, their knowledge about the abusive episodes, their child-care skills and deficits, and their potential for contributing to a long-term child-protection plan. In some situations, it may be possible for the abuser to stay with members of the extended family, provided this does not put other children at risk for abuse.

Theexpectedrisein48 hours for a viable intrauterine pregnancy is generally acknowledgedtobeatleast50% treatment nurse generic 200 mg seroquel otc,althoughresearchers inonerecent treatment 7th march order seroquel 200 mg on-line,largestudysuggestedthatathresholdof 35%shouldbeusedtocaptureallnormalintrauterine pregnancies medicine express buy seroquel 100mg visa. Theabsenceofchorionicvilli on examination of the biopsy specimen makes the diagnosisofectopicpregnancymuchmorelikely medications metabolized by cyp2d6 cheap 300mg seroquel with mastercard. Thelevelsofprogesterone remainrelativelyconstantfrom5to10weeksofgestation, so only a single specimen is needed. Levels less than 5ng/mL are consistent with an abnormal pregnancywithhighspecificityanda60%sensitivity. Levels greater than 20ng/mL indicate a healthy pregnancy with95%sensitivityand40%specificity. Unfortunately, most ectopic pregnancies have levels of progesterone inthe6to19ng/mLrange,whichisnotusefulfordiagnosticpurposes. Ultrasound may not be able to identify these ectopic sitesbecauseoftheirproximitytotheendometrium. Culdocentesis (needle aspiration of pelvic peritoneal fluid through the posterior fornix) has largely been replaced by ultrasonic imaging of free fluid in thecul-de-sac. However,aspirationofperitonealfluid can help distinguish nonclotting blood (hemoperitoneum) from clear fluid (ruptured ovarian cyst) and purulent material (acute infection). This information maybeusefulwhentheclinicalpresentationisconfusing and the results would influence the choice of therapy. Ithastheadvantageofprovidingtreatmentifanectopic gestation is found (see below), but it does entail increased surgical risks and costs. Even with laparoscopy, there is a 2-5% rate of misdiagnosis, either becausetheectopicpregnancywastoosmalltoberecognized (false-negative) or because other processes wereresponsibleforthesuspiciousappearanceofthe fallopiantube(false-positive). With transvaginal ultrasonography, a gestational sac is usually visible between 4. Theyolk saccanbevisualizedbetween5and6weeksandafetal pole with cardiac motion appears between 5. On ultrasound, an early normal intrauterine pregnancy has an eccentrically located echolucent area with a "double-ring" sign representing the decidual lining and the chorion around the early decidual sac. This early gestational sac can be confused with a C H A P T E R 24 Ectopic Pregnancy 309 Differential Diagnosis A number of other disorders need to be considered in the differential diagnosis of ectopic pregnancy. Although pelvic pain and a positive pregnancy test should strongly suggest ectopic pregnancy, on occasion some other pain-producing disorder may occur in conjunction with an early intrauterine pregnancyandmayneedtobeconsidered(seeBox24-1). Definite or probable ectopic pregnancy indicated on ultrasound by presence of significant free fluid in cul-de-sac, extrauterine gestational sac with yolk sac and/or embryo, or inhomogeneous adnexal mass or extrauterine sac-like structure. Abnormal intrauterine pregnancy indicated on ultrasound by gestational sac with fetus, but no cardiac motion or large, anembryonic sac. In general, medical management is preferred for an early ectopic pregnancy, and surgery is reserved for unstable patients, those whose diagnosis is uncertain, and those whose medical therapy has failed. Itisalsothe preferred approach whenever it is anticipated that laparoscopy would not be successful. Ifitisdetermined intraoperatively that laparoscopy is not possible, the surgerycanalwaysbeconvertedtolaparotomy. Salpingectomy (removaloftheentirefallopiantube)isrecommended when there has been significant damage to the tube, whenapatientwhopreviouslyhasbeensterilizedverifies that she still does not desire future fertility, and whenthereisahighlikelihoodofretainedproductsof conception. Partial salpingectomy (removal of a portion of the fallopian tube) is generally performed only if the ectopicpregnancyisimplantedinthemid-ampullary portion. Anincisionisthenmadethroughtheantimesentericborderofthefallopiantube,theproductsofconception are removed, and hemostasis is established. With salpingotomy, the incision is closed, whereas it is left open in a salpingostomy. Most studies have shown that salpingostomy results in better long-term tubal function compared with salpingotomy. In addition, there is a 10-20% risk of residual trophoblastic tissue whenever the products of conception are dissected from the fallopian tube(i. Randomized trials have shown no difference in overall tubalpreservation,tubalpatency,repeatectopicpregnancy,orfuturepregnancyratesinwomentreatedwith medical management compared with tube-sparing laparoscopic surgery. Pelvicrest(no sexual activity) is required, and women should also avoidsunlightexposureandvigorousphysicalexercise. Gastrointestinal side effects, stomatitis, and hairlossarepossible,especiallywithmoreprolonged therapy. Womenmayexperienceabdominalpain2to 3 days after injection, which is potentially caused by continued expansion of the pregnancy mass. They should return immediately if they have any sudden severeabdominalpain,shoulderpain,ordizziness. Thetreatmentisaimed at removing the pregnancy and preserving as much normalovariantissueaspossible. Whenovarianpreservation is not possible, usually because of profuse bleeding,oophorectomyisindicated. Cervical ectopic pregnancy usually presents with profuse vaginal bleeding, and attempts at removal of thepregnancyareoftenunsuccessful. Hysterectomy is reserved for large cervical ectopic pregnancies not amenable to nonsurgical intervention and for actively bleeding cervical pregnancies that cannot be controlled conservatively. Atthetimeoflaparotomy in advanced gestations, the placenta presents amajortechnicaldifficulty.

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Female liberation movements are good for news stories because of their atmosphere of perversion treatment pancreatitis order seroquel 100 mg fast delivery, female depravity treatment glaucoma generic seroquel 50mg on line, sensation and solemn absurdity medications 247 generic 200 mg seroquel otc. More than any of the female students she had seized upon the problem of the polarity doctor of medicine purchase seroquel 200 mg on line, of the gulf which divides men and women from humanity and places them in a limbo of opposite sides. She advanced the most shocking strategy for allowing women to move back to humanity-simply, that they exterminate men. Public bra-burning, hexing the Chase Manhattan Bank, and invading the annual Bride Fair at Madison Square Garden dressed as witches and bearing broom-sticks were all bally-hoo operations, and, given the susceptibility of the commercial system to its own methods, they worked, to the point of causing the Wall Street 348 market to drop five points, but nowadays, through fear of the Tactical Police Force and other forms of establishment reprisal, what is essentially a publicity movement has gone anonymous and underground. In fact, no publicity is still bad publicity, especially when women are so tied to a lifelong habit of careless reading that most of the sneering was lost on them, and where it was not its obvious-ness provoked a certain sympathy for the individuals who were being so grossly ill-treated by the media which were exploiting them. Every time a statement by a woman seeking liberation, either from taxation which prevents her from practising her profession as a married woman or from sexual dominion and inauthenticity, reaches the newspapers, the response is enormous, and the controversy spreads over several issues, if we take the article by Vivian Gornick in the Village Voice as an example. It is to be hoped that more and more women decide to influence the media by writing for them, not being written about. The influence could extend to other media as well, for the enormous belly of daily television must be fed, and if feminist programmes are financed by cosmetic firms so much the better. In any case, insulting and excluding reporters is no defence against them; censorship is the weapon of oppression, not ours. The movement is endlessly divided and dividing but this may be taken as a sign of life, if not power. There is no great coherence in their theory and no particular imagination or efficiency to be observed in their methods. The Tufnell Park Liberation workshop produced a paper called Shrew which is badly distributed. They begged them to desist because it was so unladylike and their image was already so shabby, and when the next issue of Shrew appeared it contained an official lamentation about the demeanour of these strange women, assuming in pity for their uncouthness that they were Coventry housewives with four children apiece, the very people the Women liberators were anxious to help! The new Feminist Theatre, sponsored by Red Stockings, fills the Village Gate in New York. An anti-female-liberation motion was overwhelmingly defeated by a predominantly male audience at a university debate that I spoke at lately, when a similar debate five years ago, although argued much better than this, was roundly defeated. When I addressed a very mixed and uneccentric audience at an adult education centre on Teesside the week before, soft-spoken nervous women spoke in front of their husbands about the most subversive ideas. Nurses are misbehaving, the teachers are on strike, skirts are all imaginable levels, bras are not being bought, abortions are being demanded. It is not a sign of revolution when the oppressed adopt the manners of the oppressors and practise oppression on their own behalf. Neither is it a sign of revolution when women ape men, and men women, or even when laws against homosexuality are relaxed, and the intense sexual connotation of certain kinds of clothes and behaviour are diminished. The attempt to relax the severity of the polarity in law bears no relation to the sway that male-female notions hold in the minds and hearts of real people. We know that such women do not champion their own sex once they are in positions of power, that when they are employers they do not employ their own sex, even when there is no other basis for discrimination. After all they get on better with men because all their lives they have manipulated the susceptibilities, the guilts and hidden desires of men. That women should seek a revolution in their circumstances by training themselves as a fighting force is the most obvious case of confusing reaction or rebellion with revolution. Now that warfare, like industry, is no longer a matter of superior physical strength, it is no longer 354 significant in the battle of women for admission to humanity. It is associated with wealth, in the manufacture of sophisticated armaments, in the maintenance of armies of police of all varieties, in the mounting of huge defences which by their very existence precipitate the chaos of war. War is the admission of defeat in the face of conflicting interests: by war the issue is left to chance, and the tacit assumption that the best man will win is not at all justified. It might equally be argued that the worst, the most unscrupulous man will win, although history will continue the absurd game by finding him after all the best man. Wars cannot be won, as any Englishman ruefully contrasting his post-war fortunes with those of guilty Nazi Europe is confusedly aware. Women who adopt the attitudes of war in their search for liberation condemn themselves to acting out the last perversion of dehumanized manhood, which has only one foreseeable outcome, the specifically masculine end of suicide. It is true that men use the threat of physical force, usually histrionically, to silence nagging wives: but it is almost always a sham. At various stages in my life I have lived with men of known violence, two of whom had convictions for Grievous Bodily Harm, and in no case was I ever offered any physical aggression, because it was abundantly clear from my attitude that I was not impressed by it. Violence has a fascination for most women; they act as spectators at fights, and dig the scenes of bloody violence in films. Most fights are degrading, confused affairs: most men do not hit the thing they aim at, and most end up letting themselves get hurt in their own confused masochism. He does not see the fight through, but seeks to end it quickly by doing as much harm as he can as soon as he can. It would be genuine revolution if women would suddenly stop loving the victors in violent encounters. If they could only see through the brawn and the bravado to the desolation and the misery of the man who is goaded into using his fists (for batteredlooking strong men are always called out by less obviously masculine men who need to prove themselves). Why can they not understand the deification of the strongman, either as soldier, wrestler, footballer or male model, seeing that his fate so closely approximates their own? If women would only offer a genuine alternative to the treadmill of violence, the world might breathe a little longer with less pain. If women were to withdraw from the spectatorship of wrestling matches, the industry would collapse; if soldiers were certainly faced with the withdrawal of all female favours, as Lysistrata observed so long ago, there would suddenly be less glamour in fighting. The male perversion of violence is an essential condition of the degradation of women. The penis is conceived as a weapon, and its action upon women is understood to be somehow destructive and hurtful.

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Programs to treatment plan for ptsd purchase seroquel 50mg on line increase housing stock include special government grants and loans and tax credits for builders of new housing stock medicine 877 cheap 50mg seroquel free shipping, especially when intended to medicine 0025-7974 buy 100mg seroquel with visa provide for the poor of disabled medicine to calm nerves purchase seroquel 50 mg otc. The third phase is usually transitional Programs providing rental subsidies include Federal and state programs. Except for very severely psychotic best known Federal rental subsidy is the loved ones unable to live in the community, "Housing Choice Voucher" (formerly hospital inpatient commitments can be "Section 8 vouchers) provided by the U. Their ultimate goal Department of Housing and Urban is almost always community placement Development and generally passed through upon discharge after a shortest possible stay. Third are supports, critical for many house loved ones for only a limited period of time, such as six weeks, as a bridge loved ones with psychiatric disabilifrom homeless or emergency housing ties. These in supervision and care staff among assume that a loved one can find, or the residents in "group homes". They the market proalso include moderate supports like "For a disabled loved one, there vide, such an abode in such visits by a social are seven stages of housing, time. It is a combination of housing and perhaps only a weekly visit by a social services intended as a cost-effective way to worker, or a collective food shopping out- help those with the most complex challenges live more stable, productive, integrating. A goal of supportive housing is evensidered the simplest and surest: familial tually for a loved one to recover sufficiently housing. A loved one living with parents, at to be ultimately capable of independent livleast theoretically, can enjoy housing that is ing. The fifth phase, subsidized housing, is family is usually high, use of outside services in this phase is usually very low. Of housing generally offered at below market course, familial housing presupposes an rates to for the indigent. Private landphase of a housing odyssey: emergency lords participating in subsidized rental housing. Thus, this phase, although their subsidies are the most emergent form of housing is a linked not to their buildings but to individhospital emergency room. Another emer- ual tenants who present rental subsidy gent form of housing are emergency shel- vouchers. The penultimate phase is "affordable" ters, where a loved one without a place to stay might find housing only a few nights. In New Jersey as one example, affordable housing is a kind of privately-developed housing derived in new building projects. Typically, developers must dedicate 20% of units in a new housing project to the affordable housing category. Renters or buyers of such units are typically designated by income category, such as "moderate", "low", and "very low". Each category is defined by a family income range set by the government and depending on family size. To bolster the lower revenue flows from affordable housing rentals, project developers adjust their market rates for the rest of their units accordingly. The economic benefit of an affordable housing unit to a loved one qualified as a very low income renter can be substantial. A very low income unit rental can be four or five times below the rental for a comparably sized unit on the regular market. A very low income purchase price for an affordable unit can be half the market price. Finally, the seventh phase, with the most plentiful supply, but too often for those with disabilities with the least attainable prices, is of course regular market housing. Understanding the First step to planning For families navigating the maelstrom of mental illness, the housing challenge is vexing. More than half the battle for parents is first to see the components and the phases of housing as a loved one with a psychiatric disability might experience it. Understanding its three aspects (stock, subsidies, and supports) and its seven phases (familial, emergent, transitional, supportive, subsidized, affordable, and market) is half the battle. It can be a great help both to reduce undue parental anxiety and to begin charting a long-term strategy for navigating the treacherous shoals of housing for loved ones with psychiatric disabilities. But when I noticed she was daydreaming often, having a hard time focusing on her homework, and struggling to focus during conversations with her friends, I was at a loss. Families often wonder if and where their children with special needs will live on their own. But housing with supports will maximize independence for individuals with all kinds of disabilities. In addition to people with disabilities, it is also helpful to assist individuals to "age in place" and not have to move later. Accessibility features can include walk/roll-in showers, lower countertops and sinks, placement of switches/ outlets/doorknobs, etc. Supportive housing is designed for people with special needs including those with mental, physical and developmental disabilities as well as people who are homeless. Supportive housing provides a safe, affordable home with access to support services so that individuals can live as independently as possible in communities of their choice. Supportive housing can be found in a variety of settings, in different constellations, and may include scattered site apartments, individual apartments, shared apartments as well as (more rarely) home ownership. Some supportive housing exists in affordable housing complexes that are often integrated with non-disabled individuals/ families. Supportive services can vary but often include case management, care coordination, job and education coaching, assistance with daily living skills, transportation assistance, access to public entitlements and crisis intervention.

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Although most mutations occur spontaneously symptoms 2 months pregnant purchase seroquel 100mg free shipping, they can be induced by radiation medicine naproxen 500mg cheap 50 mg seroquel amex, toxins medications ok for dogs cheap seroquel 50 mg without prescription, and viruses medications zyprexa generic 100mg seroquel mastercard. If they are present in the germline, they can be passed on from one generation to the next. Depending on where in the gene they occur, however, point mutations are capable of causing a missense mutation or a nonsense mutation (Figure 1. A missense mutation results in a change in the triplet code that substitutes a different amino acid in the protein chain. The result is an accumulation of phenylalanine that can cause brain damage (see Chapter 16). In a nonsense mutation, the single base pair substitution produces a stop codon that prematurely terminates the protein formation. As a result, multiple benign neurofibroma tumors form on the body and in the brain. Point Mutations Insertions and Deletions Mutations can also involve the insertion or deletion of one or more nucleotide bases. As one example, insertion of nucleotides in the fukutin gene (expressed in muscle, brain, and eyes) can affect its function when associated with other mutations and cause Fukuyama congenital muscular dystrophy (Saito, 2012). In contrast, a common mutation in another inherited muscle disease, Duchenne muscular dystrophy, usually involves a deletion in the dystrophin gene (see Chapter 9). Base additions or subtractions may also lead to a frame shift in which the three-base-pair reading frame is shifted. All subsequent triplets are misread, often leading to the production of a stop codon and a nonfunctional protein. Examples of point mutations: Missense mutation, nonsense mutation, and frame shift mutation. They help turn other genes on and off and are very important in the normal development of the fetus. A mutation in a transcription gene leads to RubinsteinTaybi syndrome, which is associated with multiple congenital malformations and severe intellectual disability (Spena, Gervasini, & Milani, 2015). Mutations in a transcription gene also may result in a normal protein being formed but at a much slower rate than usual, leading to an enzyme or other protein deficiency. Affected children manifest growth delay, a dysmorphic appearance including confluent eyebrows, limb impairments, and intellectual disability. This genetic variation is the basis of evolution, but it can also contribute to health, unique traits, or disease. Selective Advantage the incidence of a genetic disease in a population depends on the difference between the rate of mutation production and that of mutation removal. Natural selection, the process by which individuals with a selective advantage survive and pass on their genes, works to remove these errors. For instance, because individuals with sickle cell disease (an autosomal recessive inherited blood disorder) historically have had a decreased life span, the gene that causes this disorder would have been expected to be removed from the gene pool over time. Sometimes natural selection, however, favors the individual who is a carrier of one copy of a mutated recessive gene. In Africa, where malaria is endemic, carriers of this disorder have a selective advantage. Northern Europeans, for whom malaria is not an issue, rarely carry the sickle cell gene at all; this mutation has presumably died out via natural selection in this population (Jorde et al. While cultivating pea plants, he noted that when he bred two differently colored plants-yellow and green-the hybrid offspring all were green rather than mixed in color. Mendel concluded that the green trait was dominant, whereas the yellow trait was recessive (from the Latin word for "hidden"). Later, scientists determined that many human traits, including some birth defects, are also inherited in this fashion. These disorders can be transmitted to offspring on the autosomes or on the X chromosome. Thus, Mendelian disorders are characterized as being autosomal recessive, autosomal dominant, or X-linked. Single Nucleotide Polymorphisms Despite the more than 3 billion base pairs in the genetic code, people of all races and geography share a 99. For a child to have a disorder that is autosomal recessive, he or she must carry an abnormal gene on both copies of the relevant chromosome. In the vast majority of cases, this means that the child receives an abnormal copy from both parents. It is caused by the absence of an enzyme, hexosaminidase A, which normally metabolizes a potentially toxic product of nerve cells (Kaback & Desnick, 2011). In affected children, this product cannot be broken down and is stored in the brain, leading to progressive brain damage and early death. The different forms of a gene, called alleles, include the normal gene, which can be symbolized by a capital "A" because it is dominant, and the mutated allele (in this example, carrying Tay-Sachs disease), which can be symbolized by the lowercase "a" because it is recessive (Figure 1. Upon fertilization, the embryo receives two genes for hexosaminidase A, one from the father and one from the mother. Because Tay-Sachs disease is a recessive disorder, two abnormal recessive genes (aa) are needed to produce a child who has the disease.

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References:

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