一个与2A型多发性内分泌肿瘤（MEN2A）基因座紧密连锁的新的多态性标记（D10S97）。
A new polymorphic marker (D10S97) tightly linked to the multiple endocrine neoplasia type 2A (MEN2A) locus.
作者信息
Lichter J B, Wu J, Brooks-Wilson A R, Difillipantonio M, Brewster S, Ward D C, Goodfellow P J, Kidd K K
机构信息
Yale University Department of Genetics, New Haven, CT 06510.
出版信息
Hum Genet. 1993 Jan;90(5):516-20. doi: 10.1007/BF00217451.
Familial multiple endocrine neoplasia type 2A (MEN 2A) is a cancer syndrome that is inherited as an autosomal dominant with high penetrance. Its clinical features are medullary carcinoma of the thyroid, pheochromocytomas, and hyperparathyroidism. A new polymorphic locus D10S97 (probe: KW6 delta SacI) detects a codominant EcoRI polymorphism that is tightly linked to the MEN2A locus. The peak lod score for linkage between D10S97 with MEN2A is 13.03 at theta = 0.00. The polymorphic locus D10S97 maps, by linkage analysis, into the previously defined interval between FNRB and RBP3 to which MEN2A has been assigned. We present physical mapping data showing that the probe pKW6 originates from 10p13 and that the polymorphic locus D10S97 in 10q11.2 is detected by cross-hybridization.
家族性2A型多发性内分泌腺瘤病（MEN 2A）是一种作为常染色体显性高外显率遗传的癌症综合征。其临床特征为甲状腺髓样癌、嗜铬细胞瘤和甲状旁腺功能亢进。一个新的多态性位点D10S97（探针：KW6 delta SacI）检测到一种共显性的EcoRI多态性，它与MEN2A位点紧密连锁。D10S97与MEN2A之间连锁的最高对数优势分数在θ = 0.00时为13.03。通过连锁分析，多态性位点D10S97定位于先前定义的FNRB和RBP3之间的区间，MEN2A已被定位到该区间。我们提供的物理图谱数据表明，探针pKW6源自10p13，并且通过交叉杂交检测到10q11.2中的多态性位点D10S97。
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