Wintle R F, Cox D W
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
Genomics. 1994 Sep 1;23(1):151-7. doi: 10.1006/geno.1994.1471.
Physical mapping of the human immunoglobulin heavy chain gene cluster (IGH) on chromosome 14 has previously shown that the locus includes at least 63 variable region (VH) gene segments. Fifteen VH gene segments are located on six NotI DNA restriction fragments that are not within the mapped region of IGH. We have used human/rodent somatic cell hybrid lines to map these gene segments, as it was previously not proven that they are located in the chromosome 14 IGH locus. Four gene segments map to human chromosome 16 and two to chromosome 15. Apparently, four of the six NotI fragments, representing 11 VH gene segments, are not located within the chromosome 14 IGH locus. In addition, we have demonstrated that a YAC containing a functional human telomere, and mapping to 14qter, is located at the telomeric end of the IGH gene cluster physical map and contains at least four VH gene segments. This YAC is collinear with the existing physical map of genomic DNA. We conclude that our original physical map of IGH represents almost the entire locus on chromosome 14 and that the 11 gene segments newly mapped are not part of the functional IGH locus.
先前对14号染色体上人类免疫球蛋白重链基因簇（IGH）的物理图谱分析表明，该基因座至少包含63个可变区（VH）基因片段。15个VH基因片段位于6个NotI DNA限制片段上，这些片段不在IGH的已定位区域内。我们利用人/啮齿动物体细胞杂交系来定位这些基因片段，因为之前尚未证实它们位于14号染色体的IGH基因座中。4个基因片段定位于人类16号染色体，2个定位于15号染色体。显然，6个NotI片段中的4个，代表11个VH基因片段，并不位于14号染色体的IGH基因座内。此外，我们已经证明，一个含有功能性人类端粒且定位于14qter的酵母人工染色体（YAC），位于IGH基因簇物理图谱的端粒末端，并且包含至少4个VH基因片段。这个YAC与基因组DNA的现有物理图谱共线。我们得出结论，我们最初的IGH物理图谱几乎代表了14号染色体上的整个基因座，新定位的11个基因片段不是功能性IGH基因座的一部分。
