Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

Journal Article · Tue Dec 01 04:00:00 EST 1992 · American Journal of Human Genetics; (United States)

OSTI ID:7063509

Allen, R C; Zoghbi, H Y; Moseley, A B; Rosenblatt, H M; Belmont, J W ^[1]

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1. Baylor College of Medicine, Houston (United States)

The human androgen-receptor gene (HUMARA; GenBank) contains a highly polymorphic trinucleotide repeat in the first exon. The authors have found that the methylation of HpaII and HhaI sites less than 100 pb away from this polymorphic short tandem repeat (STR) correlates with X inactivation. The close proximity of the restriction-enzyme sites to the STR allows the development of a PCR assay that distinguishes between the maternal and paternal alleles and identifies their methylation status. The accuracy of this assay was tested on (a) DNA from hamster/human hybrid cell lines containing either an active or inactive human X chromosome; (b) DNA from normal males and females; and (c) DNA from females showing nonrandom patterns of X inactivation. Data obtained using this assay correlated substantially with those obtained using the PGK, HPRT, and M27[beta] probes, which detect X inactivation patterns by Southern blot analysis. In order to demonstrate one application of this assay, the authors examined X inactivation patterns in the B lymphocytes of potential and obligate carriers of X-linked agammaglobulinemia. 42 refs., 5 figs., 1 tab.

• OSTI ID: 7063509
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 51:6; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ACCURACY
ANDROGENS
ANDROSTANES
ANIMAL CELLS
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BODY FLUIDS
CARRIERS
CHEMICAL REACTIONS
CHROMOSOMES
CONNECTIVE TISSUE CELLS
DNA
FEMALES
GENES
HETEROCHROMOSOMES
HORMONES
HUMAN CHROMOSOMES
HUMAN X CHROMOSOME
INACTIVATION
LEUKOCYTES
LYMPHOCYTES
MALES
MATERIALS
MEMBRANE PROTEINS
METHYLATION
NUCLEIC ACIDS
ORGANIC COMPOUNDS
PROBES
PROTEINS
RECEPTORS
SOMATIC CELLS
STEROID HORMONES
STEROIDS
X CHROMOSOME