Meyer A, Valtot F, Béchetoille A, Rouland J F, Dascotte J C, Férec C, Bach J F, Chaventré A, Garchon H J
INSERM U25, Hôpital Necker, Paris, France.
C R Acad Sci III. 1994 Jun;317(6):565-70.
Primary open-angle glaucoma is a major cause of irreversible blindness in Western countries for which there is presently no curative treatment. Linkage of hereditary juvenile glaucoma with chromosome 1q21-q23 was recently described in 2 American families. Here we have studied two large French pedigrees with a similar form of familial autosomal dominant juvenile-onset glaucoma. Linkage of glaucoma with chromosome 1 was confirmed in these 2 families. Maximal lod-score of 7.60 was reached at the D1S212 marker for a recombination fraction of 4.4%. The typing of this marker should facilitate the screening of glaucoma families and the identification of individuals at risk for the disease. It will also provide a reference to evaluate the genetic heterogeneity of glaucoma.
原发性开角型青光眼是西方国家不可逆性失明的主要原因,目前尚无治愈方法。最近在两个美国家庭中发现遗传性青少年青光眼与1号染色体q21-q23区域连锁。在此,我们研究了两个大型法国家系,其家族性常染色体显性青少年型青光眼形式相似。在这两个家系中证实青光眼与1号染色体连锁。在D1S212标记处,重组率为4.4%时,最大对数优势得分为7.60。该标记的分型将有助于青光眼家系的筛查以及疾病高危个体的识别。它还将为评估青光眼的遗传异质性提供参考。