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Analysis of mutational changes at the HLA locus in single human sperm

✍ Scribed by Mei-Mei Huang; Henry A. Erlich; Myron F. Goodman; Norman Arnheim

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 728 KB
Volume: 6
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380060404

No coin nor oath required. For personal study only.

✦ Synopsis

Using a simple and efficient single sperm PCR and direct sequencing method, we screened for HLA-DPB1 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 DPB1 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 gametogenesis.

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