Detection of frequent BglII polymorphism by polymerase chain reaction and TaqI restriction fragment length polymorphism for 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase at the human HSD beta 3 locus (1p11-p13).
Analysis of amplified polymerase chain reaction products of 575 bp from the fourth exon of the human type I 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase gene at locus HSD beta 3 1p11-p13, reveals a frequent two-allele polymorphism at codon Leu338 due to a silent substitution of T by C, thus creating a BglII site leading to 371- and 204-bp fragments. Southern blot analysis of BglII-digested DNA from 57 individuals using a genomic probe detects two allelic fragments of 5.3 kb and 0.77 kb, respectively, while two allelic fragments of 3.7 kb and 3.4 kb are obtained in TaqI digests with multiple constant bands, as also observed with BglII digests.
Rhéaume
E
E
Medical Research Council Group in Molecular Endocrinology, CHUL Research Center, Québec, Canada.
Leblanc
J F
JF
Lachance
Y
Y
Labrie
F
F
Simard
J
J
D001426:Bacterial Proteins; D001483:Base Sequence; D015139:Blotting, Southern; D002878:Chromosomes, Human, Pair 1; D004247:DNA; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D006801:Humans; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011375:Progesterone Reductase / Q000235:genetics*; D013251:Steroid Isomerases / Q000235:genetics*
C021425:3 beta-hydroxysteroid oxidoreductase-delta(5) 3-ketosteroid isomerase; D001426:Bacterial Proteins; D009097:Multienzyme Complexes; D004247:DNA; D011375:Progesterone Reductase; C024404:BglII endonuclease; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases; D013251:Steroid Isomerases