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Analyzing Genetic Disease Through Several Generations

In this SLP you are tasked with analyzing the transmission of a genetic disease through several generations. Males are indicated by square, females by circles. Individuals with the disease are colored solid black. Speculate on the genetic basis by which this disease is inherited. If any known carriers (those carrying the gene, but not manifesting symptoms of the disease) can be identified, list the individuals.

(see the attached file for diagrams)

Hypothesis

Based on the information observed and collected from the pedigree above, the above pedigree is an example of a X-linked recessive rare conditions in human. The recessive allele a is the rare allele that caused the recessive disease phenotype. It is carried by the X chromosome of one of the parents, and is called the X-linked recessive allele. The X-linked recessive allele is passed down to only the sons of the parents , which further proved that the condition is an X-linked recessive condition. The X-linked recessive conditions here could be anything from hemophilia or color blindness. Both conditions are classical X-linked recessive conditions.

Methods and Deductive Reasoning:
Let say a = the recessive allele that cause the rare diseases hemophilia
Let say A = the dominant normal allele
The recessive allele a is on the X chromosome. The parents Martha and Ian must be carrier of the recessive allele a that cause hemophilia since both of them do not have the recessive conditions. From the mating of the parents, we can deduce the genotypes of the offsprings or descendants. Leela does not have the recessive conditions, but she must be a carrier of the recessive allele because her son have the recessive condition. Her genotype must be heterozygous for the recessive allele XAXa . Peri is a male that is not affected by the disease. He has a normal phenotype so he must have the genotype XAY. Steven has the rare recessive disorder so his genotype must be XaY. Both Sarah Jane and Donner do not have the recessive conditions, although they can be carrier. Their genotypes must be either XAXa or XAXA . Since Donner mated with Mickey and their two sons has the recessive conditions, Donner must be heterozygous with genotype XAXa. Mickey is a male that do not show the recessive condition. Therefore, his genotype must be XAY. Sarah Jane did not mated with anyone. She did not have the recessive conditions; we can conclude that her genotype must be either XAXa or XAXA.
Since Peri and Leela mated and their son have the recessive conditions, but their daughter does not. Their genotype is appropriate. Harry, the son of both Leela (genotype XAXa ) and Peri ( genotype XAY ) must have the recessive allele on his X chromosome. Harry genotype is XaY, indicating positive for the recessive condition. The daughter of Leela and Peri must have the genotype XAXA indicating no recessive condition. When Donna and Mickey mated, their offsprings are three sons (two sons has the recessive conditions) and one daughter with no recessive conditions. Donner must be a carrier with genotype XAXa and Mickey must have the genotype XAY. Since both of their sons Ben and Mike have the recessive conditions, their genotype must be XaY . Jack is a male that does not show the recessive condition;his genotype must be XAY. Since both Ben and Amy (offsprings of Donna and Mickey) mated , their one offspring daughter Rose has the recessive condition. Amy, the mother must be the heterozygous carrier with genotype XAXa . Ben, which has the recessive conditions, must have the genotype XaY. Their daughter Rose must be homozygous for the recessive allele and must have the genotype XaXa .

Conclusion
This pedigree is a classic example showing the inheritance of the X-linked recessive condition from the first generation (parents ) to the second generations and subsequently to the third generations. The recessive allele here can be any disorder that happen to be linked to the X chromosome. Here we decided to pick the recessive condition hemophilia, which is caused by a failure for blood to clot. The recessive allele arose from a spontaneous mutation in the protein Factor XIII that failed to function in blood clotting. The mutation in the allele a is either from the mother or the great grandparents of the mother that passed down to subsequent generations. The X-linked recessive allele condition can only be passed down through the X chromosome. The most important clues about the X-linked recessive inheritance is that both parents does not have to be affected, but are carrier of the X-linked recessive allele. The recessive allele on the X-linked chromosome is passed down and only affected male sons because males only have one X chromosome. The daughter can be heterozygous carrier and not be affected with the recessive condition because they have another X dominant chromosome that dominate over the expression of the recessive trait. Males cannot be carrier of the X-linked recessive trait; they can either do not have the recessive allele or be affected with the recessive allele. Females can be heterozygous carrier of the recessive alleles and not get the phenotype. Females can also be homozygous carrying only the dominant unaffected allele. The only scenario where the daughter can get the recessive conditions is when the mother is a carrier with genotype XAXa and the father has the recessive allele with genotype XaY. The daughter may get the Xa allele from the mother and the Xa allele from the affected father. The affected daughter genotype is XaXa as you can see in the mating of the two parents Ben and Amy with their affected daughter Rose.

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Solution Preview

See attached file for solution.

Hypothesis

Based on the information observed and collected from the pedigree above, the above pedigree is an example of a X-linked recessive rare conditions in human. The recessive allele a is the rare allele that caused the recessive disease phenotype. It is carried by the X chromosome of one of the parents, and is called the X-linked recessive allele. The X-linked recessive allele is passed down to only the sons of the parents , which further proved that the condition is an X-linked recessive condition. The X-linked recessive conditions here could be anything from hemophilia or color blindness. Both conditions are classical X-linked recessive conditions.

Methods and Deductive Reasoning:
Let say a = the recessive allele that cause the rare diseases hemophilia
Let say A = the dominant normal allele
The recessive allele a is on the X chromosome. The parents Martha and Ian must be carrier of the recessive allele a that cause hemophilia since both of them do not have the recessive conditions. From the mating of the parents, we can deduce the genotypes of the offsprings or descendants. Leela does not have the recessive conditions, but she must be a carrier of the recessive allele because her son have the recessive condition. Her genotype must be ...

Solution Summary

Human phenotypes are mainly determined by simple Mendelian Genetics much like the Mendel’s peas. Many pairs of differential human phenotypes are determined by pairs of alleles inherited in the same way as shown by Mendel. (1) Pedigree analysis can reveal the inheritance patterns, but the pedigree have to be analyze based on whether one of the contrasting phenotypes is a rare disorder or whether both phenotypes of pair is part of normal variation.(1) The application of Mendelian genetic to medicine is based on many disorders or diseases that are inherited as dominant or recessive phenotypes. A pedigree is constructed based on the history of the phenotype of the family. (1) The abnormal condition of the recessive disorder is determined by a recessive allele, and the corresponding unaffected phenotype is determined by a dominant allele. Human have an X-Y sex determining strategy with the male bearing the genotype XY and the female bearing the genotype XX. (1) It is the presence of the Y chromosome that determines the maleness in human. X-linkage is the inheritance patterns of genes found on the X chromosome but not on the Y chromosome.(1) X-linked recessive inheritance is based on the presence of the recessive allele on the X chromosome that is transfer to the progeny. It can be deduced from the human pedigrees through the following rules:

1. More males show the recessive phenotype than females because females have two X chromosomes and affected females must have two recessive allele on both of their X chromosomes. (1) Affected females can be produced only from mating in which both the mother and the father bear the allele. For example, XAXa X Xa Y , the affected female would have the genotype XaXa . The affected male can be produced when only the mother carries the allele. For example in the cross XAXa X XAY , the affected male would have the genotype XaY. If the recessive allele a is very rare, then almost all affected persons are males. (1)
2. If the phenotype is rare, none of the offspring of an affected male are affected, and all his daughters carry the allele that is masked in the heterozygous conditions; one half of the sons borned by these daughters are affected. (1)

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