A strabismus susceptibility locus on chromosome 7p.
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.
Parikh
Vaishali
V
Departments of Molecular Biology and Genetics, Neuroscience, and Ophthalmology, and Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Shugart
Yin Yao
YY
Doheny
Kimberly F
KF
Zhang
Jie
J
Li
Lan
L
Williams
John
J
Hayden
David
D
Craig
Brian
B
Capo
Hilda
H
Chamblee
Denise
D
Chen
Cathy
C
Collins
Mary
M
Dankner
Stuart
S
Fiergang
Dean
D
Guyton
David
D
Hunter
David
D
Hutcheon
Marcia
M
Keys
Marshall
M
Morrison
Nancy
N
Munoz
Michelle
M
Parks
Marshall
M
Plotsky
David
D
Protzko
Eugene
E
Repka
Michael X
MX
Sarubbi
Maria
M
Schnall
Bruce
B
Siatkowski
R Michael
RM
Traboulsi
Elias
E
Waeltermann
Joanne
J
Nathans
Jeremy
J
D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D008957:Models, Genetic; D010375:Pedigree; D013285:Strabismus / Q000235:genetics*
D005819:Genetic Markers