A hypervariable locus D16S309 located at the distal end of 16p

作者：Nicola J. Royle, John A.L. Armour, Michael B. T. Webb, Alison Thomas, Alec J. Jeffreys · 发表于：Nucleic Acids Research · 年份：1992 · DOI：10.1093/nar/20.5.1164 · 被引用次数：21 · 研究领域：Genomic variations and chromosomal abnormalities、Chromatin Remodeling and Cancer、Genomics and Chromatin Dynamics

Probe MS205 was detected by probe 33.15 (1) in a lambda L47. 1 library of MboI digested, size fractionated DNA (5 -20kbp) pooled from 20 unrelated individuals (2).The 5. 1kbp insert was subcloned into the BamHI site of pUC 13 resulting in the subclone pMS205.2which was propagated in E.coli strain DH5a (BRL).Polymorphism: pMS205.2detects a hypervariable locus in genomic DNA digested with MboI and Hinfl revealing DNA fragments 4-7kbp and 2 -Skbp in length respectively.It cannot be detected in HaellI, RsaI or HpaII genomic digests as these enzymes cut within the minisatellite repeat unit.Heterozygosity: The D16S309 locus has multiple alleles and a heterozygosity of 96% or 97 % among 202 unrelated Caucasians and 204 unrelated Afro-Caribbeans tested respectively.Chromosome Localization: The D16S309 locus has been assigned to chromosome 16 by hybridization of the probe pMS205.2to a human-rodent somatic cell hybrid panel of DNAs and to 16p by linkage analysis, where it is closely linked to the 3' and 5' HVRs of the ce-globin locus which is located approximately 145kbp from the telomere of 16p (3).Mendelian Inheritance: Co-dominant inheritance of the MboI DNA fragments detected by pMS205.2 has been shown among the 40 reference families of the CEPH panel.Other Comments: The D16S309 locus has a germline mutation rate to new length alleles of 0.004 per gamete, estimated from 257 families where maternity and paternity have been verified.