Emmert-Buck M R, Debelenko L V, Agarwal S, Kester M B, Manickam P, Zhuang Z, Guru S C, Olufemi S E, Burns A L, Chandrasekharappa S C, Lubensky I A, Liotta L A, Skarulis M C, Spiegel A M, Marx S J, Collins F S
Laboratory of Pathology, National Cancer Institute, Bethesda, Maryland 20892, USA.
Mol Genet Metab. 1998 Feb;63(2):151-5. doi: 10.1006/mgme.1997.2649.
We analyzed constitutional and tumor DNA from 27 MEN1 kindreds not known to be related to each other. Disease allele haplotypes were constructed for each pedigree based on shared alleles from two or more affected members and from determination of allelic loss patterns in their tumors. Analysis of disease allele haplotypes showed unexpected linkage disequilibrium at marker PYGM. Further haplotype analysis indicated this could be explained by the presence of two founder chromosomes, one in four families, the other in three. A shared disease haplotype was not observed among two MEN1 kindreds with the prolactinoma phenotype of MEN1.
我们分析了来自27个互不相关的MEN1家族的胚系和肿瘤DNA。基于两个或更多受影响成员的共享等位基因以及其肿瘤中等位基因缺失模式的确定，为每个家系构建了疾病等位基因单倍型。疾病等位基因单倍型分析显示在标记PYGM处存在意外的连锁不平衡。进一步的单倍型分析表明，这可以由两个奠基者染色体的存在来解释，一个存在于四个家族中，另一个存在于三个家族中。在具有MEN1泌乳素瘤表型的两个MEN1家族中未观察到共享的疾病单倍型。
