基因连锁研究将2型多发性内分泌腺瘤病基因座定位到10号染色体长臂11.2区的一个小区域。
Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2.
作者信息
Gardner E, Papi L, Easton D F, Cummings T, Jackson C E, Kaplan M, Love D R, Mole S E, Moore J K, Mulligan L M
机构信息
Department of Pathology, University of Cambridge, UK.
出版信息
Hum Mol Genet. 1993 Mar;2(3):241-6. doi: 10.1093/hmg/2.3.241.
We have carried out genetic linkage analyses using fifteen polymorphic loci in the pericentromeric region of chromosome 10 in families with the inherited cancer syndromes multiple endocrine neoplasia (MEN) type 2A or 2B. A highly polymorphic microsatellite from the locus D10S141 in q11.2 was found to be recombinant with respect to the disease locus in two individuals and defines a new proximal flanking marker for both MEN2A and 2B. An additional recombination provides evidence that the locus D10S94, also in q11.2, is the closet distal flanking marker for MEN2A. This localises the MEN2A gene to a small region of 10q11.2 flanked by the loci D10S141 and D10S94, which are separated by a sex-averaged genetic distance of 0.55 cM. The MEN2B gene maps to a larger region, flanked by D10S141 and RBP3.
我们利用位于10号染色体着丝粒周围区域的15个多态性位点，对患有遗传性癌症综合征2A型或2B型多发性内分泌腺瘤病（MEN）的家系进行了遗传连锁分析。在两个个体中发现，位于q11.2的D10S141位点的一个高度多态性微卫星与疾病位点发生了重组，从而为MEN2A和MEN2B定义了一个新的近端侧翼标记。另外一次重组证明，同样位于q11.2的D10S94位点是MEN2A最接近的远端侧翼标记。这将MEN2A基因定位到了10q11.2的一个小区域，两侧分别是D10S141和D10S94位点，它们之间的平均遗传距离为0.55厘摩。MEN2B基因定位于一个更大的区域，两侧分别是D10S141和RBP3。
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