4. Genetic Mapping and Linkage

Mapping Genes

Open Question
Another cross in Drosophila involved the recessive, X-linked genes yellow (y), white (w), and cut (ct). A yellow-bodied, white-eyed female with normal wings was crossed to a male whose eyes and body were normal but whose wings were cut. The F₁ females were wild type for all three traits, while the F₁ males expressed the yellow-body and white-eye traits. The cross was carried to an F₂ progeny, and only male offspring were tallied. On the basis of the data shown here, a genetic map was constructed.Phenotype Male Offspringy + ct 9+ w + 6y w ct 90+ + + 95+ + ct 424y w + 376y + + 0+ w ct 0Could the F₂ female offspring be used to construct the map? Why or why not?
Open Question
Another cross in Drosophila involved the recessive, X-linked genes yellow (y), white (w), and cut (ct). A yellow-bodied, white-eyed female with normal wings was crossed to a male whose eyes and body were normal but whose wings were cut. The F₁ females were wild type for all three traits, while the F₁ males expressed the yellow-body and white-eye traits. The cross was carried to an F₂ progeny, and only male offspring were tallied. On the basis of the data shown here, a genetic map was constructed.Phenotype Male Offspringy + ct 9+ w + 6y w ct 90+ + + 95+ + ct 424y w + 376y + + 0+ w ct 0Construct a map, assuming that white is at locus 1.5 on the X chromosome.
Open Question
Another cross in Drosophila involved the recessive, X-linked genes yellow (y), white (w), and cut (ct). A yellow-bodied, white-eyed female with normal wings was crossed to a male whose eyes and body were normal but whose wings were cut. The F₁ females were wild type for all three traits, while the F₁ males expressed the yellow-body and white-eye traits. The cross was carried to an F₂ progeny, and only male offspring were tallied. On the basis of the data shown here, a genetic map was constructed.Phenotype Male Offspringy + ct 9+ w + 6y w ct 90+ + + 95+ + ct 424y w + 376y + + 0+ w ct 0Diagram the genotypes of the F₁ parents.
Open Question
In Drosophila, Dichaete (D) is a mutation on chromosome III with a dominant effect on wing shape. It is lethal when homozygous. The genes ebony body (e) and pink eye (p) are recessive mutations on chromosome III. Flies from a Dichaete stock were crossed to homozygous ebony, pink flies, and the F₁ progeny, with a Dichaete phenotype, were backcrossed to the ebony, pink homozygotes. Using the results of this backcross shown in the table,Phenotype NumberDichaete 401ebony, pink 389Dichaete, ebony 84pink 96Dichaete, pink 2ebony 3Dichaete, ebony, pink 12wild type 13What is the sequence and interlocus distance between these three genes?
Open Question
The table given here lists the arrangement of alleles of linked genes in dihybrid organisms, the recombination frequency between the genes, and specific gamete genotypes. Using the information provided, determine the expected frequency of the listed gametes. Assume one map unit equals 1% recombination and, when three genes are involved, interference is zero.

Dihybrid Recombination Gamete
Genotype Frequency Genotype
A. DE/de 8% De
B. AD/ad 28% ad
C. DEF/def E–F 24% dEf
D–E 8%
D. BdE/bDe B–D 18% Bde
D–E 8%
Open Question
Drosophila females homozygous for the third chromosomal genes pink and ebony (the same genes from Problem 16) were crossed with males homozygous for the second chromosomal gene dumpy. Because these genes are recessive, all offspring were wild type (normal). F₁ females were testcrossed to triply recessive males. If we assume that the two linked genes, pink and ebony, are 20 mu apart, predict the results of this cross. If the reciprocal cross were made (F₁ males—where no crossing over occurs—with triply recessive females), how would the results vary, if at all?
Open Question
The Rh blood group in humans is determined by a gene on chromosome 1. A dominant allele produces Rh+ blood type, and a recessive allele generates Rh-. Elliptocytosis is an autosomal dominant disorder that produces abnormally shaped red blood cells that have a short life span resulting in hereditary anemia. A large family with elliptocytosis is tested for genetic linkage of Rh blood group and the disease. The lod score data below are obtained for the family.

Over what range of θ do lod scores indicate significant evidence in favor of genetic linkage? <>
Open Question
The Rh blood group in humans is determined by a gene on chromosome 1. A dominant allele produces Rh+ blood type, and a recessive allele generates Rh-. Elliptocytosis is an autosomal dominant disorder that produces abnormally shaped red blood cells that have a short life span resulting in hereditary anemia. A large family with elliptocytosis is tested for genetic linkage of Rh blood group and the disease. The lod score data below are obtained for the family.

What is Zₘₐₓ for this family?
Open Question
The Rh blood group in humans is determined by a gene on chromosome 1. A dominant allele produces Rh+ blood type, and a recessive allele generates Rh-. Elliptocytosis is an autosomal dominant disorder that produces abnormally shaped red blood cells that have a short life span resulting in hereditary anemia. A large family with elliptocytosis is tested for genetic linkage of Rh blood group and the disease. The lod score data below are obtained for the family.

From these data, can you conclude that Rh and elliptocytosis loci are genetically linked in this family? Why or why not?
Open Question
Genetic linkage mapping for a large number of families identifies 4% recombination between the genes for Rh blood type and elliptocytosis (see Problem 18). At the Rh locus, alleles R and r control Rh+ and Rh- blood types. Allele E producing elliptocytosis is dominant to the wild-type recessive allele e. Tom and Terri each have elliptocytosis, and each is . Tom's mother has elliptocytosis and is Rh- while his father is healthy and has Rh+. Terri's father is Rh+ and has elliptocytosis; Terri's mother is Rh- and is healthy.

What is the probability that a child of Tom and Terri who is Rh+ will have elliptocytosis?
Open Question
Genetic linkage mapping for a large number of families identifies 4% recombination between the genes for Rh blood type and elliptocytosis (see Problem 18). At the Rh locus, alleles R and r control Rh+ and Rh- blood types. Allele E producing elliptocytosis is dominant to the wild-type recessive allele e. Tom and Terri each have elliptocytosis, and each is . Tom's mother has elliptocytosis and is Rh- while his father is healthy and has Rh+. Terri's father is Rh+ and has elliptocytosis; Terri's mother is Rh- and is healthy.

What is the probability that the first child of Tom and Terri will be Rh− and have elliptocytosis?
Open Question
A group of families in which an autosomal dominant condition is present are studied to determine lod scores for possible genetic linkage between three RFLP markers (R1, R2, and R3) and the disease gene. The chart shows lod scores at each of the recombination distances (θ values) tested. Provide an interpretation of the lod score results for each RFLP. Be specific about any significant evidence of genetic linkage.

RFLP θ values
0.05 0.10 0.15 0.20 0.25 0.30 0.35 0.40
R1 0.5 0.8 1.8 2.2 1.9 0.7 0.2 0.1
R2 1.1 3.1 3.8 3.0 2.1 1.0 0.8 0.1
R3 0.2 0.3 0.1 0.3 0.4 0.6 0.8 0.7
Open Question
Gene R and gene T are genetically linked. Answer the following questions concerning a dihybrid organism with the genotype Rt/rT:

If r = 0.20, give the expected frequencies of gametes produced by the dihybrid.
Open Question
How do we know that in humans the X chromosomes play no role in human sex determination, while the Y chromosome causes maleness and its absence causes femaleness?Why are many expected crossover phenotypes missing? Can any of these loci be mapped from the data given here? If so, determine map distances.
Open Question
Based on our discussion of the potential inaccuracy of mapping (see Figure 5.12), would you revise your answer to Problem 22? If so, how?