A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family

作者: N. H. Lubsen , J. H. Renwick , L. C. Tsui , M. L. Breitman , J. G. Schoenmakers

DOI: 10.1073/PNAS.84.2.489

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摘要: Abstract Within the human gamma-crystallin gene cluster polymorphic Taq I sites are present. These give rise to three sets of allelic fragments from genes. Together these restriction fragment length polymorphisms define eight possible haplotypes, which (Q, R, and S) were found in Dutch English population. A fourth haplotype (P) was detected within a family hereditary Coppock-like cataract embryonic lens nucleus occurs heterozygotes. Haplotype P only members who suffered cataract, all had P. The absolute correlation between presence this shows that locus for closely linked [logarithm odds (lod) score 7.58 at its maximum phi = 0]. This linkage provides genetic evidence primary cause humans could possibly be lesion crystallin gene.

参考文章(3)
H. F. Willard, S. O. Meakin, L. -C. Tsui, M. L. Breitman, Assignment of human gamma crystallin multigene family to chromosome 2 Somatic Cell and Molecular Genetics. ,vol. 11, pp. 511- 516 ,(1985) , 10.1007/BF01534846
P.M. Conneally, A.F. Wilson, A.D. Merritt, E.M. Helveston, C.G. Palmer, L.Y. Wang, Confirmation of genetic heterogeneity in autosomal dominant forms of congenital cataracts from linkage studies. Cytogenetic and Genome Research. ,vol. 22, pp. 295- 297 ,(1978) , 10.1159/000130957
Glazer L, Human Cataract Formation. Ciba Foundation Symposium 106 Yale Journal of Biology and Medicine. ,vol. 58, pp. 61- 62 ,(1985)