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a. From the DNA fragmentation analysis, it is clear that the polydactyly came from the parents X
chromosome as the affected sons have same band pattern as father has one band that found in
sons and mother has two bands that appeared in affected sons.
The father genotype is XbY, where Xb is affected with polydactyly.
The mother genotype is XbX, one X is unaffected, as daughters are not affected by the disease.
First son has XY genotype, Second son has XbY genotype, First daughter has XbX genotype,
third son has XbY genotype, second daughter has XbX genotype, fourth son has XbY genotype
and fifth son has XY genotype.
b. Yes. For example, AABbccDd genotype might contribute +1.3 units to genetic liability while
aabbCcdd might contribute -2.3 units to genetic liability. Due to unmeasure genetic liability, any
arbitrary unit can be set. It can be 0 which denote the mean liability and positive numbers denote
risk and negative denote protection i.e., lower probablity of developing the disease. Polydactyly
mutation was mapped to chromosome 2p. A single point mutation is maintained to carry the
mutation. A study showed that five-generation Indian family of 37 individuals have 15 affected
persons of polydactyly and genome wide mapping and haplotype analysis observed in this study
indicated highly informative polymorphic markers on part of pedigree showed linkage between
the phenotype and markers on the chromosome.
c. The first daughter is likely to be carrier of this mutation as analyzed from the restriction
fragments of the gene.
Recombination between marker and disease can never be completely ruled out, even for very
tightly linked markers, but the error rate can be greatly reduced by using two marker loci situated
on opposite sides of the disease locus. This type of flanking or bridging markers help to produce
a marker-marker recombination and at least false prediction can be avoided.
Solution
a. From the DNA fragmentation analysis, it is clear that the polydactyly came from the parents X
chromosome as the affected sons have same band pattern as father has one band that found in
sons and mother has two bands that appeared in affected sons.
The father genotype is XbY, where Xb is affected with polydactyly.
The mother genotype is XbX, one X is unaffected, as daughters are not affected by the disease.
First son has XY genotype, Second son has XbY genotype, First daughter has XbX genotype,
third son has XbY genotype, second daughter has XbX genotype, fourth son has XbY genotype
and fifth son has XY genotype.
b. Yes. For example, AABbccDd genotype might contribute +1.3 units to genetic liability while
aabbCcdd might contribute -2.3 units to genetic liability. Due to unmeasure genetic liability, any
arbitrary unit can be set. It can be 0 which denote the mean liability and positive numbers denote
risk and negative denote protection i.e., lower probablity of developing the disease. Polydactyly
mutation was mapped to chromosome 2p. A single point mutation is maintained to carry the
mutation. A study showed that five-generation Indian family of 37 individuals have 15 affected
persons of polydactyly and genome wide mapping and haplotype analysis observed in this study
indicated highly informative polymorphic markers on part of pedigree showed linkage between
the phenotype and markers on the chromosome.
c. The first daughter is likely to be carrier of this mutation as analyzed from the restriction
fragments of the gene.
Recombination between marker and disease can never be completely ruled out, even for very
tightly linked markers, but the error rate can be greatly reduced by using two marker loci situated
on opposite sides of the disease locus. This type of flanking or bridging markers help to produce
a marker-marker recombination and at least false prediction can be avoided.

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a. From the DNA fragmentation analysis, it is clear that the polydac.pdf

  • 1. a. From the DNA fragmentation analysis, it is clear that the polydactyly came from the parents X chromosome as the affected sons have same band pattern as father has one band that found in sons and mother has two bands that appeared in affected sons. The father genotype is XbY, where Xb is affected with polydactyly. The mother genotype is XbX, one X is unaffected, as daughters are not affected by the disease. First son has XY genotype, Second son has XbY genotype, First daughter has XbX genotype, third son has XbY genotype, second daughter has XbX genotype, fourth son has XbY genotype and fifth son has XY genotype. b. Yes. For example, AABbccDd genotype might contribute +1.3 units to genetic liability while aabbCcdd might contribute -2.3 units to genetic liability. Due to unmeasure genetic liability, any arbitrary unit can be set. It can be 0 which denote the mean liability and positive numbers denote risk and negative denote protection i.e., lower probablity of developing the disease. Polydactyly mutation was mapped to chromosome 2p. A single point mutation is maintained to carry the mutation. A study showed that five-generation Indian family of 37 individuals have 15 affected persons of polydactyly and genome wide mapping and haplotype analysis observed in this study indicated highly informative polymorphic markers on part of pedigree showed linkage between the phenotype and markers on the chromosome. c. The first daughter is likely to be carrier of this mutation as analyzed from the restriction fragments of the gene. Recombination between marker and disease can never be completely ruled out, even for very tightly linked markers, but the error rate can be greatly reduced by using two marker loci situated on opposite sides of the disease locus. This type of flanking or bridging markers help to produce a marker-marker recombination and at least false prediction can be avoided. Solution a. From the DNA fragmentation analysis, it is clear that the polydactyly came from the parents X chromosome as the affected sons have same band pattern as father has one band that found in sons and mother has two bands that appeared in affected sons. The father genotype is XbY, where Xb is affected with polydactyly. The mother genotype is XbX, one X is unaffected, as daughters are not affected by the disease. First son has XY genotype, Second son has XbY genotype, First daughter has XbX genotype, third son has XbY genotype, second daughter has XbX genotype, fourth son has XbY genotype and fifth son has XY genotype. b. Yes. For example, AABbccDd genotype might contribute +1.3 units to genetic liability while
  • 2. aabbCcdd might contribute -2.3 units to genetic liability. Due to unmeasure genetic liability, any arbitrary unit can be set. It can be 0 which denote the mean liability and positive numbers denote risk and negative denote protection i.e., lower probablity of developing the disease. Polydactyly mutation was mapped to chromosome 2p. A single point mutation is maintained to carry the mutation. A study showed that five-generation Indian family of 37 individuals have 15 affected persons of polydactyly and genome wide mapping and haplotype analysis observed in this study indicated highly informative polymorphic markers on part of pedigree showed linkage between the phenotype and markers on the chromosome. c. The first daughter is likely to be carrier of this mutation as analyzed from the restriction fragments of the gene. Recombination between marker and disease can never be completely ruled out, even for very tightly linked markers, but the error rate can be greatly reduced by using two marker loci situated on opposite sides of the disease locus. This type of flanking or bridging markers help to produce a marker-marker recombination and at least false prediction can be avoided.