Cystic Fibrosis is a condition that affects the pancreas, liver, intestines, and lungs, making the organs develop a thick muscular layer. The protein mutated by cystic fibrosis is regarded as CFTR (cystic fibrosistransmembraneconductance regulator). Those with Marfan syndrome often have long limbs and thin-fingered legs. This results from a disorder in the connective tissue. The Marfansyndrome is caused by a gene known as FBN1that is situated on the 15q21.1. Chromosome, q arm, region 2 bands 1, sub-band 1.
Huntington’s disease is considered as a dominant genetic disorder. For an allele Hthat represents the disorder and h that represents no disorder, those with Hhwill acquire the Huntington’s disease. The S’s father has Huntington’s disease. This means that his genotype can HHor Hh. S’s mother lacks the disease or a family history of the condition, meaning that her genotype is hh.
If the genotype of Sam’s father is HH, Sam will get only the genotype Hhwhere H comes from father and h from the mother. This means that Sam will have the disease. But if Sam’s father is heterozygous Hh, a Punnetsquare can be used for crossing between Hh and hh.
From this, it can be deduced that there is a 50% probability that Sam will develop the hhgenotype and 50% probability that Sam will develop genotype Hh.
Penetrance is the probability of a trait or genebeing expressed. Expressivity is the variation in phenotypic expression in cases where an allele is a penetrant.
From this pedigree, it can be deduced that there is an autosomal recessive trait because only two of the three children indicates inheritance of the trait. A homozygous dominant would have passedthe trait to all the children.
Mitochondrial DNA is a genetic material present in the mitochondria. It is passed down from mothers to their children. However, sons are not capable of passing down their mothers’mtDNAto their children because an mtDNA is passed through a female egg.
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