ASSIGNMENT OF A LOCUS FOR FAMILIAL MELANOMA, MLM, TO CHROMOSOME-9P13-P22

被引：476

作者：

CANNONALBRIGHT, LA

GOLDGAR, DE

MEYER, LJ

LEWIS, CM

ANDERSON, DE

FOUNTAIN, JW

HEGI, ME

WISEMAN, RW

PETTY, EM

BALE, AE

OLOPADE, OI

DIAZ, MO

KWIATKOWSKI, DJ

PIEPKORN, MW

ZONE, JJ

SKOLNICK, MH

机构：

[1] UNIV UTAH,SCH MED,DEPT MED INFORMAT,SALT LAKE CITY,UT 84112

[2] UNIV TEXAS,MD ANDERSON CANC CTR,DEPT MOLEC GENET,HOUSTON,TX 77030

[3] MIT,CTR CANC RES,CAMBRIDGE,MA 02139

[4] MIT,DEPT BIOL,CAMBRIDGE,MA 02139

[5] NIEHS,MOLEC CARCINOGENESIS LAB,RES TRIANGLE PK,NC 27709

[6] YALE UNIV,SCH MED,DEPT GENET,NEW HAVEN,CT 06510

[7] UNIV CHICAGO,MED CTR,DEPT MED,CHICAGO,IL 60637

[8] HARVARD UNIV,BRIGHAM & WOMENS HOSP,SCH MED,BOSTON,MA 02115

[9] UNIV WASHINGTON,SCH MED,DEPT MED,SEATTLE,WA 98195

[10] UNIV WASHINGTON,SCH MED,DEPT PATHOL,SEATTLE,WA 98195

来源：

SCIENCE | 1992年 / 258卷 / 5085期

关键词：

D O I：

10.1126/science.1439824

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Linkage analysis of ten Utah kindreds and one Texas kindred with multiple cases of cutaneous malignant melanoma (CMM) provided evidence that a locus for familial melanoma susceptibility is in the chromosomal region 9p13-p22. The genetic markers analyzed reside in a candidate region on chromosome 9p21, previously implicated by the presence of homozygous deletions in melanoma tumors and by the presence of a germline deletion in an individual with eight independent melanomas. Multipoint linkage analysis was performed between the familial melanoma susceptibility locus (MLM) and two short tandem repeat markers, D9S126 and the interferon-alpha (IFNA) gene, which reside in the region of somatic loss in melanoma tumors. An analysis incorporating a partially penetrant dominant melanoma susceptibility locus places MLM near IFNA and D9S126 with a maximum location score of 12.71. Therefore, the region frequently deleted in melanoma tumors on 9p21 presumably contains a locus that plays a critical role in predisposition to familial melanoma.

引用

页码：1148 / 1152

页数：5

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