Polydactyly is an inherited trait that results in extra fingers or toes. In the United States 0.1% of the population exhibits polydactyly. People with polydactyly have the genotype Pp, where P represents the allele that causes polydactyly and p represents the normal allele of this gene. Which of the following is true?
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- The Turner Kieser Syndrome (or nail patella syndrome) is a dominant human disease (prevalence about 1/100.000), which impairs the normal development of, nails and kneecaps (patella). In the following study the mutant allele for this gene is noted "M" and the wild type allele "m". On the family tree below black symbols (circles for women and squares for men) indicate people suffering from KSS and open symbols represent healthy persons. Moreover, all individuals have been genotyped at the locus controlling blood type ([O] : ii ; [A] : Iª_ ; [B] : /B_ ; [AB] : /A/B) 1 2 Reminder 3 ilB iIB 2 3 O iIB IB iIB 7 O ii iIB IB IA ii ii Z(0) = Log10 6 4 What to conclude from this value of Z ? 5 ilA ilA ii 8 9 probability if linkage probability if independant 10 2 ilB Calculate the LOD-score Z (Logarithm Of Odds) for a genetic distance set to 10 cM (hence a recombination frequency of 0 = 0,1). 11 12 13 = ii iIB ii ii ii iIB IB 14 15 16 Log10 L (0<0,5) L (0=0,5)About 4 percent of people of Northern European descent have a cystic fibrosis allele, but only about 1 in 2,500 of these people actually has the disorder. What is the most likely reason for this finding?The young woman shown at right has albinismvery pale skin, white hair, and pale blue eyes. This phenotype is due to the absence of melanin, which imparts color to the skin, hair, and eyes. It typically is caused by a recessive allele. In the following situations, what are the probable genotypes of the father, the mother, and their children? a. Both parents have normal phenotypes; some of their children are albino and others are not. b. Both parents and all their children are albino. c. The mother is not albino, the father is albino, and one of their four children is albino.
- Below in Figure 1 is a pedigree for a family afflicted by a genetic disorder. In some populations, Cystic fibrosis has an incidence of 1 in 2500 newborns. The carrier frequency calculated from this is 1/25. Analyze the pedigree below assuming the disease is similar to cystic fibrosis in incidence and carrier frequency. However this disease may not have the same type of genetic transmission as cystic fibrosis. What type of genetic transmission is most consistent with the pedigree? Label all the individuals that you can determine, with hypothesized genotypes. Label the individuals that have unknown genotypes with possible genotypes. Assuming her father is known to NOT be a carrier, calculate the probability that IV1 is a carrier for disease. Use the Χ2 test to determine whether your proposed transmission fits this data.The MC1R gene affects skin and hair color in humans.There are at least 13 polymorphisms of the gene inEuropean and Asian populations, 10 of which are nonsynonymous. In Africans, there are at least 5 polymorphisms of the gene, none of which are nonsynonymous.What might be one explanation for the differences inMC1R variation between Africans and non-Africans?Cystic fibrosis (CF) is an autosomal recessive disorderthat occurs relatively frequently among people ofEuropean descent. In an Amish community in Ohio,medical researchers reported the occurrence of cysticfibrosis (CF) as being 1/569 live births. Using theHardy–Weinberg rule, estimate the frequency of carriers of the disease allele in this Amish population.
- Identify each of the following as an example of allele, genotype,and/or phenotype frequency:A. Approximately 1 in 2500 individuals of Northern Europeandescent is born with cystic fibrosis.B. The percentage of carriers of the sickle cell allele in WestAfrica is approximately 13%.C. The number of new mutations per generation resultingin achondroplasia, a genetic disorder, is approximately5 × 10−5.Consider two blood polymorphisms that humans have in addition to the ABO system. Two alleles LM and LN determine the M, N, and MN blood groups. The dominant allele R of a different gene causes a person to have the Rh+ (rhesus positive) phenotype, whereas the homozygote for r is Rh− (rhesus negative). Two men took a paternity dispute to court, each claiming three children to be his own. The blood groups of the men, the children, and their mother were as follows:From this evidence, can the paternity of the children be established?A human gene called the β-globin gene encodes a polypeptidethat functions as a subunit of the protein known as hemoglobin.Hemoglobin is found within red blood cells; it carries oxygen. Inhuman populations, the β-globin gene can be found as the common allele called the HbAallele, and it can also be found as theHbSallele. Individuals who have two copies of the HbSallele havethe disease called sickle cell disease. Are the following examplesdescriptions of genetics at the molecular, cellular, organism, orpopulation level?A. The HbSallele encodes a polypeptide that functions slightlydifferently from the polypeptide encoded by the HbAallele.B. If an individual has two copies of the HbSallele, that person’sred blood cells take on a sickle shape.C. Individuals who have two copies of the HbAallele do nothave sickle cell disease, but they are not resistant to malaria.People who have one HbAallele and one HbSallele do not havesickle cell disease, and they are resistant to malaria. People whohave…
- Identify each of the following as an example of allele, genotype, and/or phenotype frequency: A. Approximately 1 in 2500 people of Northern European descent is born with cystic fibrosis. B. The percentage of carriers of the sickle cell allele in West Africa is approximately 13%. C. The number of new mutations for achondroplasia, a genetic disorder, is approximately 5 × 10–5.In mice, the A allele causes agouti fur, the AY allele causes yellow fur and is dominant to the A allele. The homozygous AY AY genotype is lethal. Why is the AYAY homozygous condition lethal? The AY allele highly transcribes the merc gene which is lethal in a homozygous AYAY individual. None of the other answers are correct. The AY allele lacks an upstream merc gene which is required for normal embryonic development. The AY allele contains a null mutation in the A gene, which is required for normal embryonic development. The yellow pigment produced by A allele is required for survival.In chickens, a dominant hereditary abnormality (e.g., creepers) causes death when the genotype is homozygous (CC). The recessive condition (cc) at this locus produces a normal phenotype. Another gene locus with co dominant alleles is known to govern feather color such that the genotype FF = black, ff = splashed white, and Ff = blue. Also, a completely dominant gene W produces white skin. Yellow skin is produced by the homozygous genotype ww. QUESTIONS: In CcFfWw x ccffWw, what proportion of the offspring is: b.2 normal, white feathered, white skinned b.3 yellow skinned