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In the field of molecular diagnostics, which of the following areas utilizes genetic
testing for information on an individual's ability to metabolize a drug?
Pharmacogenomics
Which of the follow statements below are recognized goals of the human genome
project?
-Catalog all human genes
-Develop better understanding of gene structure and function
-Determine variation in populations
-Link genetics to human health and disease
Which of the terms below is a break and exchange genetic material between two
chromosomes?
Translocation
Mature halpoid male or female germ cell that is able to unite with another of
opposite sex
Gamete
Belongs to 1 of 22 pairs of chromosomes that are alike in males and females
Autosome
,Diploid cell of the human body that makes up most of the tissues
Somatic cell
X or Y chromosome
Sex chromosome
Different form of a gene
Allele
Well organized, rod shaped unit of DNA
Chromosome
Area on chromosome where gene is located
Locus
Defined set of chromosomes specific to organism in relation to number,
morphology and content
Karyotype
Chromosomes within a pair that carry the same genetic information
homologous chromosome
Chromosomes that are more genetically dense tend to have a less severe
outcome if s mutation is present
False
During meiosis, when does crossing over occur?
Prophase 1
In sickle cell anemia, if a carrier mom and carrier dad have a child, what is the
chance that their child will be affected by the disease?
25%
, Single gene disorders tend to affect children more severely than adults.
True
What is the degree of separation between a proband and his grandmother?
Second degree
Although mutations in the BRCA1 and BRCA2 genes have been associated with
an increased risk of breast cancer, some people that have these mutations do not
develop the disease. Is this an example of reduced penetrance or expressivity?
Penetrance
A man with vitamin D-resistant rickets transmits the condition to all his
daughters, who have a milder form of the disease than their father has; none of
his sons is affected. The daughters have approximately equal numbers of
unaffected sons, affected sons, unaffected daughters, and affected daughters,
the affected sons being more severely affected than their affected sisters. What is
this most likely an example of?
X-linked dominant inheritance
A boy has progressive muscular dystrophy with onset in early childhood and is
wheelchair-bound by the age of 12 years. An unrelated man also has progressive
muscular dystrophy but is still ambulant at the age of 30 years. Molecular
analysis shows that both patients have large deletions in the dystrophin gene,
which encodes the protein that is deficient or defective in the Duchenne and
Becker types of muscular dystrophy. Which concepts below describe this
example?