DNA sequences for 10 individuals are

How many different SNP haplotypes are represented in the data?

A genetic study of an early onset form of heart disease identifies 10 families containing members with the condition. No clear dominant or recessive pattern of inheritance is evident, but an analysis of SNP markers for five families detects a strong association with a marker on chromosome 12, and genetic linkage analysis for the marker produces a lod score of 2.2.

What do the association and lod score results suggest about this genetic marker?

In Drosophila, a female fly is heterozygous for three mutations, Bar eyes (B), miniature wings (m), and ebony body (e). Note that Bar is a dominant mutation. The fly is crossed to a male with normal eyes, miniature wings, and ebony body. The results of the cross are as follows.

111 miniature; 101 Bar, ebony

29 wild type; 31 Bar, miniature, ebony

117 Bar; 35 ebony

26 Bar, miniature; 115 miniature, ebony

Interpret the results of this cross. If you conclude that linkage is involved between any of the genes, determine the map distance(s) between them.

DNA sequences for 10 individuals are

Identify the haplotype carried by each person.

DNA sequences for 10 individuals are

What is the sequence of each haplotype?

DNA sequences for 10 individuals are

Identify the nucleotide positions of all SNPs (single nucleotide polymorphisms).

How would the results vary in cross (a) of Problem 32 if genes A and B were linked with no crossing over between them? How would the results of cross (a) vary if genes A and B were linked and 20 map units (mu) apart?

Because of the relatively high frequency of meiotic errors that lead to developmental abnormalities in humans, many research efforts have focused on identifying correlations between error frequency and chromosome morphology and behavior. Tease et al. (2002) studied human fetal oocytes of chromosomes 21, 18, and 13 using an immunocytological approach that allowed a direct estimate of the frequency and position of meiotic recombination. Below is a summary of information that compares recombination frequency with the frequency of trisomy for chromosomes 21, 18, and 13.

What conclusions can be drawn from these data in terms of recombination and nondisjunction frequencies? How might recombination frequencies influence trisomic frequencies?

Based on previous family studies, an autosomal recessive disease with alleles A and a is suspected to be linked to an RFLP marker. The RFLP marker has four alleles, R₁, R₂, R₃, and R₄. The accompanying pedigree shows a three-generation family in which the disease is present. The gel shows the RFLP alleles for each family member directly below the pedigree symbol for that person. After determining the genotypes for the RFLP and disease gene for each family member, answer the following questions.

Based on your analysis, what is the recombination frequency in this family? Explain how you obtained your answer.