Here is a pedigree of a family with Charcot-Marie-Tooth (CMT) disease and a gel with the results of PCR amplification of the B350 microsatellite. B350 is tightly linked to the gene that causes CMT when mutated. Note: II-2 inherited a non-recombinant chromosome from her mom but some of her siblings may have inherited a recombinant chromosome. Ideally recombination rarely occurs between a gene of interest and a microsatellite but it can happen. Using the pedigree and microsatellite data, what is the mode of inheritance of this disease? A.X-linked dominant B.X-linked recessive C.autosomal dominant D.autosomal recessive E.more than one of the above could be true
Added by Tracy W.
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If both males and females are affected, it is likely not X-linked. If it was X-linked, we would expect to see more males affected because they only have one X chromosome and therefore only need one copy of the mutated gene to express the disease. In this case, we Show more…
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Madhur L.
A woman has Charcot-Marie-Tooth (CMT) disease, which she inherited from her mother. CMT disease is an X-linked dominant disease. The woman's father has Hemophilia A, which is an X-linked recessive disease. Both diseases show complete penetrance. The woman has just had twins, a boy and a girl. The father of the children has neither disorder. The genes for the two disorders are known to be 20 cM apart. What is the probability that the boy will have neither disorder? Explain your answer. [8 marks] What is the probability that the girl will have CMT disease but not have Hemophilia A? Explain your answer. [marks]
Supreeta N.
An autosomal allele $N$ in humans causes abnormalities in nails and patellae (kneecaps) called the nail-patella syndrome. Consider marriages in which one partner has the nail-patella syndrome and blood type A and the other partner has normal nails and patellae and blood type O. These marriages produce some children who have both the nail-patella syndrome and blood type A. Assume that unrelated children from this phenotypic group mature, intermarry, and have children. Four phenotypes are observed in the following percentages in this second generation: nail-patella syndrome, blood type A $66 \%$ normal nails and patellae, blood type $0 \quad 16 \%$ normal nails and patellae, blood type A $9 \%$ nail-patella syndrome, blood type $\mathrm{O}$ $9 \%$ Fully analyze these data, explaining the relative frequencies of the four phenotypes. (See pages $219-220$ for the genetic basis of these blood types.)
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