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Analysis of mutational changes at the HLA locus in single human sperm
Author(s) -
Huang MeiMei,
Erlich Henry A.,
Goodman Myron F.,
Arnheim Norman
Publication year - 1995
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/humu.1380060404
Subject(s) - biology , heteroduplex , genetics , locus (genetics) , allele , sperm , human leukocyte antigen , gene conversion , gene , antigen
Using a simple and efficient single sperm PCR and direct sequencing method, we screened for HLA‐DPBl gene mutations that may give rise to new alleles at this highly polymorphic locus. More than 800 single sperm were studied from a heterozygous individual whose two alleles carried 16 nucleotide sequence differences clustered in six polymorphic regions. A potential microgene conversion event was detected. Unrepaired heteroduplex DNA similar to that which gives rise to postmeiotic segregation events in yeast was observed in three cases. Control experiments also revealed unusual sperm from DPBl homozygous individuals. The data may help explain allelic diversity in the MHC and suggest that a possible source of human mosaicism may be incomplete DNA mismatch repair during gameto genesis. © 1995 Wiley‐Liss, Inc.