Localized breakdown in linkage disequilibrium does not always predict sperm crossover hot spots in the human MHC class II region.

Abstract:

:To investigate the relationship between meiotic crossover hot spots and block-like linkage disequilibrium (LD), we have extended our high-resolution studies of the human MHC class II region to a 90-kb segment upstream of the HLA-DOA gene. LD blocks in this region are not as well defined as in the neighboring 210-kb DNA segment but do show two regions of LD breakdown in which coalescent analysis indicates substantial historical recombination. Sperm crossover analysis of one region revealed a novel localized hot spot similar in intensity and morphology to most other MHC hot spots. Crossovers at this hot spot are not obviously affected by a large insertion/deletion polymorphism near the hot spot. The second region of LD breakdown, within the DPB1 gene, shows an extremely low level of sperm crossover activity and does not contain a sperm crossover hot spot. These results highlight the complexity of LD patterns and the importance of experimentally verifying crossover hot spots.

journal_name

Genomics

journal_title

Genomics

authors

Kauppi L,Stumpf MP,Jeffreys AJ

doi

10.1016/j.ygeno.2005.03.011

subject

Has Abstract

pub_date

2005-07-01 00:00:00

pages

13-24

issue

1

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(05)00086-8

journal_volume

86

pub_type

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