CARRIER DETECTION IN X-LINKED OCULAR ALBINISM USING LINKED DNA POLYMORPHISMS
CARRIER DETECTION IN X-LINKED OCULAR ALBINISM USING LINKED DNA POLYMORPHISMS
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DOI：
10.1136/bjo.78.7.539
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发表时间：
1994-07-01
影响因子：
4.1
通讯作者：
YATES, JRW
中科院分区：
文献类型：
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作者：
CHARLES, SJ;MOORE, AT;YATES, JRW
对19个X连锁眼白化病（OA 1）家系中62名携带者风险为50%的女性进行了评估。29例（47%）有明确的眼底变化的载体状态与泥浆飞溅的眼底外观和23（37%）有正常的眼科检查。10例（16%）有轻微的周边视网膜色素变性的变化，因此很难排除携带者的状态，这些女性中有6人被证明是在低风险和只有一个在高风险的载体DNA分析使用连锁DNA多态性，包括一个高度信息二核苷酸重复在卡尔曼基因座。轻度周边视网膜色素变性，变化不是携带者状态的明确指示，在45名年龄匹配的女性对照中，5名（11%）有类似的变化。通过DNA分析，没有发现临床正常眼底的女性处于高风险中。分子遗传学分析提高了OA1家族中携带者III检测的准确性，如果临床结果不明确，应考虑进行分子遗传学分析。
Sixty two females at 50% carrier risk were assessed from 19 families affected by X linked ocular albinism (OA1). Twenty nine (47%) had definite fundus changes of the carrier state with a mud splattered fundus appearance and 23 (37%) had a normal ophthahmic examination. Ten (16%) had mild peripheral retinal pigmentary changes so that it was difficult to exclude the carrier state; six of these females were shown to be at low risk and only one at high risk of being a carrier by DNA analysis using linked DNA polymorphisms, including a highly informative dinucleotide repeat at the Kallmann locus. Mild peripheral retinal pigmentary, changes are not a definite indication of carrier status and in 45 age matched female controls five (11%) had similar changes. No female with a clinically normal fundus was found to be at high risk by DNA analysis. Molecular genetic analysis improves the accuracy of carrier III detection in OA1 families and should be considered if the clinical findings are equivocal.