The BCRA-1 allele is associated with very high risk of breast and ovarian cancers. Is this allele consistent with the mutation accumulation theory or the antagonistic pleiotropy theory of senescence? Why? A couple of sentences answer is fine.
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- In retinoblastoma, a mutation in one allele of the RB1 tumorsuppressorgene can be inherited from the germ line, causingan autosomal dominant predisposition to the developmentof eye tumors. To develop tumors, a somatic mutation in thesecond copy of the RB1 gene is necessary, indicating that themutation itself acts as a recessive trait. Given that the firstmutation can be inherited, in what ways can a second mutationalevent occur?The mutant FMR-1 allele that causes fragile X syndrome is considered to be X-linked dominant withincomplete penetrance and variable expressivity.Why do most females heterozygous for one mutantand one normal allele have at least some symptomsof the disease?Attached are three pedigrees. For each trait, considerwhether it is or is not consistent with X-linked recessiveinheritance. In a sentence or two, indicate why or why not.
- . Neurofibromas are tumors of the skin that can arisewhen a skin cell that is originally NF1+/ NF1− losesthe NF1+ allele. This wild-type allele encodes a functional protein (called a tumor suppressor), while theNF1− allele encodes a nonfunctional protein.A patient of genotype NF1+ / NF1− has 20 independent tumors in different areas of the skin. Samplesare taken of normal, noncancerous cells from thispatient, as well as of cells from each of the 20 tumors.Extracts of these samples are analyzed by a techniquecalled gel electrophoresis that can detect variantforms of four different proteins (A, B, C, and D) allencoded by genes that lie on the same autosome asNF1. Each protein has a slow (S) and a fast (F) formthat are encoded by different alleles (for example, ASand AF). In the extract of normal tissue, slow and fastvariants of all four proteins are found. In the extractsof the tumors, 12 had only the fast variants of proteinsA and D but both the fast and slow variants of proteins B and…Duchenne muscular dystrophy is sex linked and usuallyaffects only males. Victims of the disease become progressively weaker, starting early in life.a. What is the probability that a woman whose brotherhas Duchenne’s disease will have an affected child?b. If your mother’s brother (your uncle) had Duchenne’sdisease, what is the probability that you have receivedthe allele?c. If your father’s brother had the disease, what is theprobability that you have received the allele?. Researchers discovered recently that the sole functionof the SRY protein is to activate an autosomal genecalled Sox9 in the presumptive gonad (before it has“decided” to become a testis or an ovary).a. What would be the sex of an XY individual homozygous for nonfunctional mutant alleles of Sox9?Explain.
- In 1952, an article in the British Medical Journalreported interesting differences in the behavior ofblood plasma obtained from several people who suffered from X-linked recessive hemophilia. Whenmixed together, the cell-free blood plasma from certain combinations of individuals could form clots inthe test tube. For example, the following table showswhether clots could form (+) or not (−) in variouscombinations of plasma from four people withhemophilia:1 and 1 − 2 and 3 +1 and 2 − 2 and 4 +1 and 3 + 3 and 3 −1 and 4 + 3 and 4 −2 and 2 − 4 and 4 −What do these data tell you about the inheritance ofhemophilia in these individuals? Do these data allowyou to exclude any models for the biochemical pathway governing blood clotting?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?A woman who sought genetic counseling is found to be heterozygousfor a chromosomal rearrangement between the second andthird chromosomes. Her chromosomes, compared to those in anormal karyotype, are diagrammed on the next page:(a) This woman is phenotypically normal. Does thissurprise you? Why or why not? Under what circumstancesmight you expect a phenotypic effect of such arearrangement?
- What are mitosis and meiosis? These two processes arehow parent cells produce daughter cells. However, they have two entirely differentgoals. What are the key steps of these two types of cellular reproduction? How does thebehavior of chromosomes during meiosis generate variation and explain Mendel’s lawof independent assortment?A rare class of dominant gain-of-function _______ arisesfrom neomorphic mutations that generate a novel phenotype.?Researchers discovered recently that the sole functionof the SRY protein is to activate an autosomal genecalled Sox9 in the presumptive gonad (before it has“decided” to become a testis or an ovary).a. What would be the sex of an XY individual homozygous for nonfunctional mutant alleles of Sox9?Explain.b. Given your answer to part (a), why is SRY, ratherthan Sox9, considered the male determining factor?(Hint: What do you think would happen if you didan experiment like the one in the Fast Forward BoxTransgenic Mice Prove That SRY Is the MalenessFactor, except that you used a Sox9 transgeneinstead of SRY?)