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Recombination analysis of autosomal short tandem repeats in C hinese H an families
Author(s) -
Liu QiuLing,
Luo Hong,
Zhao Hu,
Huang XiaoLing,
Cheng JianDing,
Lu DeJian
Publication year - 2014
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/elps.201300417
Subject(s) - international hapmap project , genetics , biology , recombination fraction , linkage (software) , genetic linkage , microsatellite , recombination , haplotype , genotype , gene mapping , allele , gene , chromosome
Recombination fractions between forensic STR s can be extrapolated from the I nternational H ap M ap P roject, but the concordance between recombination fractions predicated from genetic maps and derived from observation of STR transmissions in families is still ambiguous for autosomal STR s because of limited family studies. Therefore, the main goal of this study is to compare recombination fractions estimated by pedigree analysis with those derived from H ap M ap phase SNP data. Genotypes of nine autosomal STR pairs ( TPOX ‐ D 2 S 1772, D 5 S 818‐ CSF 1 PO , D 7 S 3048‐ D 7 S 820, D 8 S 1132‐ D 8 S 1179, TH 01‐ D 11 S 2368, v WA ‐ D 12 S 391, D 13 S 325‐ D 13 S 317, D 18 S 51‐ D 18 S 1364, and D 21 S 11‐ P enta D ) from 207 two‐generation families with two to five children (the number of families with five, four, three, and two children was 2, 3, 20, and 182, respectively) were used to analyze the recombination. The linkage analysis showed that significant linkage was observed at six STR pairs ( D 5 S 818‐ CSF 1 PO , D 8 S 1132‐ D 8 S 1179, TH 01‐ D 11 S 2368, v WA ‐ D 12 S 391, D 13 S 325‐ D 13 S 317, and D 18 S 51‐ D 18 S 1364) with genetic distances <36.22 cM in H ap M ap. Their recombination fractions calculated from family data were very close to those derived from H ap M ap. However, three STR pairs of TPOX ‐ D 2 S 1772, D 7S3048‐ D 7S820, and D 21S11‐ P enta D showed no significant linkage with genetic distances from 43.38 to 91.49 cM. Our results indicate that recombination fractions extrapolated from H ap M ap can provide a substitute if empirical data are unavailable for the linkage STR pair with a genetic distance spanned <36.22 cM.