Linkage disequilibrium in the human insulin/insulin-like growth factor II region of human chromosome II.

Cox NJ, Bell GI, Xiang KS
Am J Hum Genet. 1988 43 (4): 495-501

PMID: 2902788 · PMCID: PMC1715486

Caucasian (N = 128) and Chinese (N = 84) subjects were typed for RFLPs in the insulin (INS)/insulin-like growth factor II (IGF2) region of chromosome 11. Both the analysis of extended haplotypes and the pairwise measures of linkage disequilibrium among the RFLPs indicate that there is extensive linkage disequilibrium in the INS/IGF2 region. The disequilibrium extends across the hypervariable region (HVR) located just 5' to the INS gene and encompasses a region of at least 40 kbp. Previous studies had suggested that linkage disequilibrium in the INS region was negligible and that this region may therefore contain a "recombinational hotspot" (Chakravarti et al. 1986). However, results of this and another recent study (Thompson et al. 1988) highlight the importance of the frequencies of associated alleles in the ability to detect linkage disequilibrium. Thus, the previous failure to detect disequilibrium in the INS region may have reflected a lack of power, rather than a true absence of disequilibrium in this region.

MeSH Terms (11)

Alleles Chromosome Mapping Chromosomes, Human, Pair 11 Gene Frequency Genetic Linkage Haplotypes Humans Insulin Insulin-Like Growth Factor II Polymorphism, Restriction Fragment Length Somatomedins

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