In humans, Cystic Fibrosis an autosomal recessive trait, currently with medicine advances people affected by this disease can live until the 40s and 50s even. A couple in which the mother is a known carrier for this disease plans to have 4 children with a man who is not affected either but had his father who had the disease. A) Please state the genotypes of the parents. Use C to denote the dominant allele and c as the recessive B) Determine the probability that the first 2 children born have Cystic Fibrosis and the 2 last children are not affected. C) In general, what proportion of the children are expected to be female carriers of Cystic Fibrosis trait?

In humans, Cystic Fibrosis an autosomal recessive trait, currently with medicine advances people affected by this disease can live until the 40s and 50s even. A couple in which the mother is a known carrier for this disease plans to have 4 children with a man who is not affected either but had his father who had the disease. A) Please state the genotypes of the parents. Use C to denote the dominant allele and c as the recessive B) Determine the probability that the first 2 children born have Cystic Fibrosis and the 2 last children are not affected. C) In general, what proportion of the children are expected to be female carriers of Cystic Fibrosis trait?

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 16QP: Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior...

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A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. What is the chance that this couple will have a child with two copies of the dominant mutant gene? What is the chance that the child will have normal height?
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