A strabismus susceptibility locus on chromosome 7p
Authors:
- Yin Yao ShugartYSYin Yao Shugart
- Kimberly F. DohenyKDKimberly F. Doheny
- Jie ZhangJZJie Zhang
- Lan LiLLLan Li
- John WilliamsJWJohn Williams
- David HaydenDHDavid Hayden
- Brian CraigBCBrian Craig
- Hilda CapoHCHilda Capo
- Denise ChambleeDCDenise Chamblee
- Cathy ChenCCCathy Chen
- Mary CollinsMCMary Collins
- 30 September 2003
- journal article
- research article
- Published by National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 100 (21) , 12283-12288
Abstract
Strabismus has been known to have a significant genetic component, but the mode of inheritance and the identity of the relevant genes have been enigmatic. This paper reports linkage analysis of nonsyndromic strabismus. The principal results of this study are: (i) the demonstrated feasibility of identifying and recruiting large families in which multiple members have (or had) strabismus; (ii) the linkage in one large family of a presumptive strabismus susceptibility locus to 7p22.1 with a multipoint logarithm of odds score of 4.51 under a model of recessive inheritance; and (iii) the failure to observe significant linkage to 7p in six other multiplex families, consistent with genetic heterogeneity among families. These findings suggest that it will be possible to localize and ultimately identify strabismus susceptibility genes by linkage analysis and mutation screening of candidate genes.Keywords
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