Graff C, Urbak S F, Jerndal T, Wadelius C
Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
Hum Genet. 1995 Sep;96(3):285-9. doi: 10.1007/BF00210408.
Autosomal dominant juvenile-onset open-angle glaucoma has been mapped to 1q21-31 in a number of American families. Our study confirms linkage in a Danish five-generation dominant juvenile-onset glaucoma family with a maximum two-point lod score of 6.67 at the D1S210 locus. Multipoint linkage analysis in a nine-generation Swedish family with dominant juvenile-onset glaucoma and iris hypoplasia excludes linkage to the region of approximately 18 cM between loci D1S104 and D1S218, shown to contain the previously mapped glaucoma gene. This study thus provides support for genetic heterogeneity with respect to dominant juvenile-onset glaucoma.
常染色体显性遗传的青少年型开角型青光眼在许多美国家庭中被定位到1q21 - 31区域。我们的研究证实了一个丹麦五代显性遗传青少年型青光眼家族中的连锁关系，在D1S210位点的最大两点连锁值为6.67。对一个患有显性遗传青少年型青光眼和虹膜发育不全的瑞典九代家族进行的多点连锁分析排除了与D1S104和D1S218位点之间约18厘摩区域的连锁关系，该区域已被证明包含先前定位的青光眼基因。因此，本研究为青少年型显性青光眼的遗传异质性提供了支持。
