PT  - JOURNAL ARTICLE
AU  - L Chen
AU  - X Pan
AU  - Y Shen
AU  - Z Chen
AU  - Y Zhang
AU  - R Chen
TI  - Highly polymorphic XbaI RFLPs of the human 21-hydroxylase genes among Chinese.
AID  - 10.1136/jmg.29.4.231
DP  - 1992 Apr 01
TA  - Journal of Medical Genetics
PG  - 231--232
VI  - 29
IP  - 4
4099  - http://jmg.bmj.com/content/29/4/231.short
4100  - http://jmg.bmj.com/content/29/4/231.full
SO  - J Med Genet1992 Apr 01; 29
AB  - A highly polymorphic XbaI restriction site flanking the human 21-hydroxylase genes (21-OHA and 21-OHB) was found with the probe pC21/3c, the cDNA of the 21-hydroxylase gene. From the results of RFLP analysis of 10 subjects with congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency and their parents, at least four polymorphic fragments (30 kb, 27 kb, 25 kb, and 15 kb) resulting from cleavage at the polymorphic endonuclease sites outside the genes were found, and at least 10 different polymorphic patterns were observed among Chinese. These results indicate that these polymorphic loci are very informative for prenatal diagnosis of 21-hydroxylase deficiency.