常染色体显性先天性白内障的一个新基因座定位于3号染色体。
A new locus for autosomal dominant congenital cataracts maps to chromosome 3.
作者信息
Kramer P L, LaMorticella D, Schilling K, Billingslea A M, Weleber R G, Litt M
机构信息
Department of Neurology, Oregon Health Sciences University, Portland 97201, USA.
出版信息
Invest Ophthalmol Vis Sci. 2000 Jan;41(1):36-9.
PURPOSE
To map a gene for cataracts in a family with congenital nuclear and sutural cataracts and to examine candidate genes in the linked region.
METHODS
A large family with autosomal dominant congenital nuclear and sutural cataracts was identified and characterized. A genome-wide screen was conducted with a set of markers spaced at 10- to 15-cM intervals, and linkage was assessed using standard LOD score analysis.
RESULT
Fifteen (15) affected individuals were identified. This form of congenital cataracts maps to a 12-cM region on chromosome 3q21.2-q22.3 between markers D3S3674 and D3S3612, with a maximum multipoint LOD score of 6.94 at D3S1273. The crystallin gene, CRYGS, was excluded as a candidate gene for this locus.
CONCLUSIONS
There are now more than 12 different genetic loci that cause congenital cataracts. The most recent locus to be identified is on chromosome 3q21.2-q22.3, in a family with congenital nuclear and sutural cataracts.
目的
在一个患有先天性核性和缝性白内障的家族中定位白内障相关基因，并检测连锁区域内的候选基因。
方法
鉴定并描述了一个患有常染色体显性先天性核性和缝性白内障的大家系。使用一组间距为10至15厘摩（cM）的标记进行全基因组筛查，并采用标准对数优势（LOD）评分分析评估连锁情况。
结果
确定了15名患病个体。这种先天性白内障形式定位于3号染色体q21.2 - q22.3区域的一个12厘摩区域，该区域位于标记D3S3674和D3S3612之间，在D3S1273处的最大多点LOD评分为6.94。晶状体蛋白基因CRYGS被排除作为该位点的候选基因。
结论
目前已有超过12个不同的基因位点可导致先天性白内障。最近确定的位点位于3号染色体q21.2 - q22.3，存在于一个患有先天性核性和缝性白内障的家族中。
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