Exam 16: Human Genetics and the Human Genome

A karyotype reveals that an individual is XYY.Based on your knowledge of human genetics you correctly conclude that this individual is phenotypically __________ and __________.

The position of a specific gene on a chromosome can be determined by:

Polyploidy may arise from the failure of chromosomes to separate during cell division or by the fertilization of an egg by more than one sperm. _________________

MATCHING Match the genetic disease with the molecular defect a.Phenylketonuria d.Tays Sach Disease b.Sickle cell anemia e.Hemophilia A c.Cystic fibrosis -abnormality in a blood clotting protein

Males with Klinefelter syndrome lack a Barr Body._______

Figure 16-2 Use the figure to answer the corresponding question(s). -The genotypes of the normal females in the second generation in Figure 16-2 are:

Genome-wide association scans compare the proteins of individuals with a particular disease to individuals without the disease. _________________

An individual who inherited the specific chromosome __________ deletion from the __________ would most likely have Prader-Willi syndrome rather than Angelman syndrome.

Identify human genetic defects or diseases that are inherited as: A. an autosomal recessive. B. an autosomal dominant. C. an X-linked recessive.

Aneuploidies describe:

Why are most infants with phenylketonuria usually healthy at birth?

Figure 16-2 Use the figure to answer the corresponding question(s). -Refer to Figure 16-2.Based on the phenotypes of the third generation, the genotype of the father in the second generation must be:

Translocation occurs when:

A fragile site

MATCHING Match the genetic disease with the molecular defect a.Phenylketonuria d.Tays Sach Disease b.Sickle cell anemia e.Hemophilia A c.Cystic fibrosis -hemoglobin molecules stick to each other

An advantage of chorionic villus sampling (compared with amniocentesis) is that:

MATCHING Match the genetic disease with the molecular defect a.Phenylketonuria d.Tays Sach Disease b.Sickle cell anemia e.Hemophilia A c.Cystic fibrosis -defect in amino acid metabolism

Which of the following correctly represents the probability that a detrimental autosomal recessive allele will actually be expressed in a population if the occurrence of the allele is such that 1 in 50 individuals are heterozygous?