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A new informative Alw 26 I polymorphism in exon 10 of the human low density lipoprotein receptor gene. Application to prenatal diagnosis
Author(s) -
Kottler MarieLaure,
Lagarde Jean Pierre,
Dahan Karin,
Zekraoui Leila,
Raisonnier Alain
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)11:6<483::aid-humu17>3.0.co;2-5
Subject(s) - biology , exon , genetics , ldl receptor , allele , locus (genetics) , familial hypercholesterolemia , restriction fragment length polymorphism , gene , heterozygote advantage , microbiology and biotechnology , genotype , lipoprotein , cholesterol , endocrinology
Using DNA sequencing of the coding and exon flanking regions of the low density lipoprotein receptor (LDLR) gene we identified an Alw26 I site in exon 10 by a transition G1426A. The alleles are represented by one uncut fragment (A1 = 108 bp) or two fragments (A2 = 82 bp and 26 pb). Two other fragments (72 bp and 16 bp) were systematically found within the amplified product. The alleles were detected in 157 unrelated French Caucasians with A1 frequency = 0.58 and A2 = 0.42. The observed heterozygoty was 44.5%. Homozygous familial hypercholesterolemie (FH) has a severe clinical picture leading to death during childhood. Because it is very informative, the present polymorphism was very useful as genetic marker for clinical diagnosis and counseling as we described in linkage analysis at the LDLR locus for prenatal diagnosis in a fetus who could inherit two LDLR mutant alleles from FH heterozygote parents. Hum Mutat 11:483, 1998. © 1998 Wiley‐Liss, Inc.