| Literature DB >> 14519848 |
Vaishali Parikh1, Yin Yao Shugart, Kimberly F Doheny, Jie Zhang, Lan Li, John Williams, David Hayden, Brian Craig, Hilda Capo, Denise Chamblee, Cathy Chen, Mary Collins, Stuart Dankner, Dean Fiergang, David Guyton, David Hunter, Marcia Hutcheon, Marshall Keys, Nancy Morrison, Michelle Munoz, Marshall Parks, David Plotsky, Eugene Protzko, Michael X Repka, Maria Sarubbi, Bruce Schnall, R Michael Siatkowski, Elias Traboulsi, Joanne Waeltermann, Jeremy Nathans.
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.Entities:
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Year: 2003 PMID： 14519848 PMCID： PMC218750 DOI： 10.1073/pnas.2035118100
Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205