Sphingomyelinase deficiency is seen

1.Sphingomyelinase deficiency is seen in:
A. Niemann – pick disease
B. Farber’s disease used for detection of specific aneuploidy?
C. Tay Sach’s disease
D. Krabbe’s disease
Ans: A.
2. Which of the following lipoproteins electrophorsis?
D. Chylomicrons
Ans: D.

  1. Prenatal Diagnosis of hemophilia is best done by:
    A. PCR
    B. Linkage analysis
    C. Cytometry
    D. Microarray
    Ans: A.

  2. Insulin like fructans are used as prebiotics as they are non digestible.
    Resistance to digestion in the upper GI
    A. Absence of Digestive enzyme in the upper GIT
    B. Beta configuration of anomeric C2
    C. Low pH of the stomach
    D. Presence of alpha-osidic linkages
    Ans: B.

  3. Rothera’s test used for detection of
    A. Proteins tract results from:
    B. Glucose
    C. Fatty Acid
    D. Ketones
    Ans: D.

  4. Which of the following liver enzymes is predominantly mitochondrial?
    A. SGOT (AST)
    B. SGPT (ALT)
    C. GGT
    D. 5’ Nucleotidase
    Ans: A.

  5. Method of chromatography in which molecules that are negatively charged are selectively released from stationary phase into the positively charged molecules in mobile phase is termed.
    A. Affinity chromatography
    B. Ion – Exchange chromatography
    C. Adsorbtion chromatography
    D. Size – exclusion chromatography
    Ans: B