Protein digestion begins in the:

_____ used for crushing and grinding

Elevated levels of leucine and isoleucine are detected by tandem mass spectrometry from a blood sample obtained from a baby within 24 hours of birth.  Subsequently, the baby’s DNA is sequenced to look for pathogenic variants in the branched chain keto-acid dehydrogenase (BCKD) gene. Which of the following terms best describes the BCKD gene sequencing analysis? A Presymptomatic screening B Carrier screening C Prenatal screening D Prenatal diagnostic testing E Newborn diagnostic testing F Newborn screening G Carrier testing H Presymptomatic testing  

A man affected with X-linked color blindness and his unaffected wife have a color blind daughter who also exhibits short stature, extra folds of skin on her neck and a low hairline. At the age of 15, she has not yet undergone puberty.  If she were affected with an aneuploidy, which of the following options best explains when the non-disjunction event occurred? A Maternal meiosis B Paternal meiosis C Post-fertilization mitosis

Which of the following options best defines negative predictive value? A The proportion of individuals affected with a condition that are correctly identified B The proportion of individuals who are not affected with a condition that are correctly identified C The proportion of individuals who screen positive on a screening test that are truly affected D The proportion of individuals who screen negative on a screening test that are truly unaffected

A 5-year-old girl presented to a pediatric cardiologist because of heart murmurs. The patient was small for her age, and had an elfin facies with a bulge forehead.  She had unusually sophisticated diction, and was remarkably sociable and happy, although her spatial abilities were weak. Laboratory analysis revealed hypercalcemia.  Echocardiography (GE vivid S5) with probe 5 MHz revealed a mild supraaortic valve stenosis and mild supravalvar and peripheral pulmonary stenosis.  Which of the following genetic tests is most likely to reveal the pathogenic variant in this patient? A Trinucleotide repeat length analysis B Karyotyping C Fluorescence in situ hybridization D Targeted mutation detection E Gene panel sequencing   

A woman inherited a pathogenic variant of the BRCA2 gene from her mother.  The genetic counselor informed her that the lifetime penetrance of this disorder is close to 90%. Which of the following is the most likely molecular explanation for this statement? A The pathogenic BRCA2 allele is dominant to the functional BRCA2 allele, resulting in BRCA2 variant expression. B The functional BRCA2 allele is likely to eventually acquire a mutation, resulting in loss of heterozygosity. C The pathogenic BRCA2 allele will be amplified, resulting in a copy number variant. D Recombination is likely to occur between the two BRCA2 alleles, resulting in compound heterozygosity. E The pathogenic BRCA2 allele will be deleted, resulting in BRCA2 hemizygosity.

How many copies of each of the genes of the pseudoautosomal region are present in a normal human male? A 1 B 0 C 3 D 2 E 4  

A 46,XY individual is carrying an SRY negative Y chromosome.  Which of the following options describes the most likely genetic, gonadal, and phenotypic sex of the patient?   Genetic Sex Gonadal Sex Phenotypic Sex A Male Male Male B Male Male Female C Male Female Male D Male Female Female E Female Male Male F Female Male Female G Female Female Male H Female Female Female

You should always use all CAPS when trying to make a point.