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- Pseudohypertrophic muscular dystrophy is an inheriteddisorder that causes gradual deterioration of the muscles. It isseen almost exclusively in boys born to apparently unaffectedparents and usually results in death in the early teens. Isthis disorder caused by a dominant or a recessive allele?Is its inheritance sex-linked or autosomal? How do youknow? Explain why this disorder is almost never seen in girls.Thomas discovered a devastating piece of family historywhen he learned that his brother had been diagnosed withHuntington disease (HD) at age 49. This dominantly inheritedautosomal condition usually begins around age 45 with progressivedementia, muscular rigidity, and seizures and ultimatelyleads to death when affected individuals are in their early 60s. Therecurrently is no effective treatment or cure for this genetic disorder.Thomas, now 38, wonders what the chances are that he also hasinherited the mutant allele for HD, leading him to discuss with hiswife whether they should seek genetic counseling and whether heshould undergo genetic testing. They have two teenage children, aboy and a girl. Question : If you were in Thomas’s position, would you want to be testedand possibly learn that you were almost certain to develop thedisorder sometime in the next 5–10 years?In individuals affected by cystic fibrosis, salt crystals may appear afterperspiration dries up. In addition, the disease causes respiratory disorderswhich can be both debilitating and lethal. It occurs in individuals homozygousfor the recessive gene. Two normal parents had a daughter with thesymptoms of this disease, and a normal son who marries a normal womanwith an afflicted A test (salt concentration in perspiration of heterozygotes ishigher than normal) disclosed that both are indeed carriers of the gene. If thefirst child born to the mating in (b) was defective, what is the probability thatthe 2nd child would also be defective?Express answer in fraction form
- B- Whattype of genetic inheritance determinesthe ABO blood group system?tl ban o a rne dononant allo le dD), ifs dccessrveallele (h) produces aght bour Another gene has wo alclcs Cm) dork boir n dominant over (b) bionde, A woman ith wooly, blonde lour roarmesan with stranght, dark hai heir daughteT has straight, blonde t What phenorypes and in what proportions can they expcct among fture children? o H X h & 7. The color in Labrador retrievers is an example of epistasis. The two alleles for the pigment gene are: (B) for black coat and its recessive counterpart (b) for chocolate coat. A different autosomal gene affects the expression of color in the coat and has two alleles, (E), which allows the expression of color, and (e), which is epistatic and blocks the expression of the B/b gene. The epistatic allele is recessive and is only expressed as a yellow color in the homozygous condition (ee), regardless of the B and b genotypes. A completely homozygous black lab was mated to a yellow lab, homozygous for the chocolate allele. Their offspring will be the F1…Ehler-Danlos syndrome is a rare disorder caused by a mutation ina gene that encodes a protein called collagen (type 3 A1). Collagenis found in the extracellular matrix that plays an important role inthe formation of skin, joints, and other connective tissues. Peoplewith Ehler-Danlos syndrome have extraordinarily flexible skin andvery loose joints. The following pedigree contains several individualsaffected with this syndrome, shown with black symbols. Basedon this pedigree, does the syndrome follow autosomal recessive,autosomal dominant, X-linked recessive, or X-linked dominantinheritance? Explain your reasoning.
- Six months pregnant, an expectant mother had a routineultrasound that showed that the limbs of the fetus wereunusually short. Her physician suspected that the babymight have a genetic form of dwarfism called achondroplasia,an autosomal dominant trait occurring with a frequency of about1 in 27,000 births. The parents were directed to a genetic counselorto discuss this diagnosis. In the conference, they learnedthat achondroplasia is caused by a mutant allele. Sometimes itis passed from one generation to another, but in 80 percent ofall cases it is the result of a spontaneous mutation that arisesin a gamete of one of the parents. They also learned that mostchildren with achondroplasia have normal intelligence and a normallife span. It has been suggested that prenatal genetic testing for achondroplasiabe made available and offered to all women. Wouldyou agree with this initiative? What ethical considerationswould you consider when evaluating the medical and societalconsequences of offering…Six months pregnant, an expectant mother had a routineultrasound that showed that the limbs of the fetus wereunusually short. Her physician suspected that the babymight have a genetic form of dwarfism called achondroplasia,an autosomal dominant trait occurring with a frequency of about1 in 27,000 births. The parents were directed to a genetic counselorto discuss this diagnosis. In the conference, they learnedthat achondroplasia is caused by a mutant allele. Sometimes itis passed from one generation to another, but in 80 percent ofall cases it is the result of a spontaneous mutation that arisesin a gamete of one of the parents. They also learned that mostchildren with achondroplasia have normal intelligence and a normallife span. What information would be most relevant to concluding whichof the two mutation origins, inherited or new, most likelypertains in this case? How does this conclusion impact on thiscouple’s decision to have more children?Maternal influence is considered a transient inheritance, explain?
- Huntington’s disease, is an incurable neurodegenerative genetic disorder that affectsmuscle coordination and some cognitive functions, typically becoming noticeable inmiddle age. It results from an autosomal dominant gene (H) and there are no carriers ofthe disease. Two parents with Huntington’s disease have an affected child. What is theprobability that their next child will be an unaffected girl if they are not double-dominant?The maternal-effect mutation bicoid (bcd) is recessive. Inthe absence of the bicoid protein product, embryogenesis isnot completed. Consider a cross between a female heterozygousfor the bicoid mutation (bcd+/ bcd-) and a homozygousmale(bcd-/ bcd-). How is it possible for a male homozygous for the mutationto exist?Bloom syndrome is an autosomal recessive disease that exhibitshaploinsufficiency. A recent survey showed that people heterozygousfor mutations at the BLM locus are at increased risk of colon cancer.Suppose you are a genetic counselor. A young woman is referred to youwhose mother has Bloom syndrome; the young woman’s father has nofamily history of Bloom syndrome. The young woman asks whether sheis likely to experience any other health problems associated with herfamily history of Bloom syndrome. What advice would you give her?