先天性淋巴水肿-双行睫综合征的一个基因定位于16q24.3。
A gene for lymphedema-distichiasis maps to 16q24.3.
作者信息
Mangion J, Rahman N, Mansour S, Brice G, Rosbotham J, Child A H, Murday V A, Mortimer P S, Barfoot R, Sigurdsson A, Edkins S, Sarfarazi M, Burnand K, Evans A L, Nunan T O, Stratton M R, Jeffery S
机构信息
Institute of Cancer Research, United Medical and Dental School, St. Thomas' Hospital, London, UK.
出版信息
Am J Hum Genet. 1999 Aug;65(2):427-32. doi: 10.1086/302500.
Abstract
Lymphedema-distichiasis (LD) is a dominantly inherited syndrome with onset of lymphedema at or just after puberty. Most affected individuals have distichiasis-fine hairs arising inappropriately from the eyelid meibomian glands-which is evident from birth. A study of three families with LD has shown linkage to chromosome 16q24.3, and subsequent analysis of the region for recombinant genes places the locus between D16S422 and D16S3074, a distance of approximately 16 cM. Possible candidate genes in this interval include the N-proteinase for type 3 collagen, PCOLN3; the metalloprotease PRSM1; and the cell matrix-adhesion regulator, CMAR.
摘要
淋巴水肿-双行睫综合征（LD）是一种显性遗传综合征，在青春期或青春期后不久出现淋巴水肿。大多数受影响个体有双行睫——睑板腺出现异常的细毛——出生时即可明显看出。一项对三个患有LD的家族的研究显示与16号染色体q24.3区域存在连锁关系，随后对该区域重组基因的分析将基因座定位在D16S422和D16S3074之间，距离约为16厘摩。该区间可能的候选基因包括Ⅲ型胶原N蛋白酶PCOLN3、金属蛋白酶PRSM1和细胞基质黏附调节因子CMAR。
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