一种导致严重眼部病变和枕部脑膨出（诺布洛克综合征）的基因被定位到21号染色体长臂22.3区。

A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.

作者信息

Sertié A L, Quimby M, Moreira E S, Murray J, Zatz M, Antonarakis S E, Passos-Bueno M R

机构信息

Departamento de Biologia, Universidade de Säo Paulo, Brazil.

出版信息

Hum Mol Genet. 1996 Jun;5(6):843-7. doi: 10.1093/hmg/5.6.843.

DOI:10.1093/hmg/5.6.843

PMID:8776601

Abstract

Knobloch syndrome (KS), characterized by high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele, was recently confirmed as autosomal recessive. Here we report the assignment of the gene for this syndrome to 21q22.3 with the marker D21S171 through homozygosity mapping in a highly inbred Brazilian family with 11 affected individuals. A total of nine markers spanning a region of 15.2 cM of the chromosome 21q22.3 were tested and the candidate region was restricted to an interval of 4.3 cM.

摘要

诺布罗赫综合征（KS）的特征为高度近视、伴有视网膜脱离的玻璃体视网膜变性、黄斑异常和枕部脑膨出，最近被确认为常染色体隐性遗传。在此，我们报告了通过对一个有11名患者的高度近亲结婚的巴西家族进行纯合性定位，将该综合征的基因定位于21q22.3，标记为D21S171。共检测了跨越21号染色体21q22.3上15.2厘摩区域的9个标记，候选区域被限定在4.3厘摩的区间内。