Exclusion of candidate genetic loci for Duane retraction syndrome

被引:9
作者
Ott, S
Borchert, M
Chung, M
Appukuttan, B
Wang, XG
Weinberg, K
Stout, JT
机构
[1] Univ So Calif, Dept Ophthalmol, Childrens Hosp Los Angeles, Sch Med,Div Ophthalmol, Los Angeles, CA 90064 USA
[2] Univ So Calif, Childrens Hosp Los Angeles, Sch Med, Div Res Immunol Bone Marrow Transplant, Los Angeles, CA 90064 USA
关键词
D O I
10.1016/S0002-9394(98)00340-7
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
PURPOSE: To report preliminary linkage analysis of a large Hispanic family showing autosomal dominant inheritance for Duane retraction syndrome, METHODS: Microsatellite analysis was used to examine genomic DNA isolated from members of a large family with autosomal dominant Duane retraction syndrome for linkage to candidate loci for Duane retraction syndrome. Chromosomes 4, 8, and 22 were chosen for study because previous reports had documented karyotypic abnormalities in unrelated patients with Duane retraction syndrome. RESULTS: No lod scores over 0.5 were found for markers on chromosomes 4, 8, or 22, This analysis excludes these candidate sites. CONCLUSIONS: Studies do not support linkage between Duane retraction syndrome in this family and chromosomes 4 , 8, and 22, Duane retraction syndrome may result from mutations in a heterogeneous group of genes. (C) 1999 by Elsevier Science Inc. All rights reserved.
引用
收藏
页码:358 / 360
页数:3
相关论文
共 5 条
  • [1] CHEW CK, 1995, AM J OPHTHALMOL, V1119, P807
  • [2] ASSOCIATION OF FAMILIAL DUANE ANOMALY AND UROGENITAL ABNORMALITIES WITH A BISATELLITED MARKER DERIVED FROM CHROMOSOME-22
    CULLEN, P
    RODGERS, CS
    CALLEN, DF
    CONNOLLY, VM
    EYRE, H
    FELLS, P
    GORDON, H
    WINTER, RM
    THAKKER, RV
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 47 (06): : 925 - 930
  • [3] DUANES RETRACTION SYNDROME
    DERESPINIS, PA
    CAPUTO, AR
    WAGNER, RS
    GUO, SQ
    [J]. SURVEY OF OPHTHALMOLOGY, 1993, 38 (03) : 257 - 288
  • [4] Sato S., 1960, JPN J OPHTHALMOL, V4, P57
  • [5] A PROPOSED NEW CONTIGUOUS GENE SYNDROME ON 8Q CONSISTS OF BRANCHIOOTORENAL (BOR) SYNDROME, DUANE SYNDROME, A DOMINANT FORM OF HYDROCEPHALUS AND TRAPEZE APLASIA - IMPLICATIONS FOR THE MAPPING OF THE BOR GENE
    VINCENT, C
    KALATZIS, V
    COMPAIN, S
    LEVILLIERS, J
    SLIM, R
    GRAIA, F
    PEREIRA, MD
    NIVELON, A
    CROQUETTE, MF
    LACOMBE, D
    VIGNERON, J
    HELIAS, J
    BROYER, M
    CALLEN, DF
    HAAN, EA
    WEISSENBACH, J
    LACROIX, B
    BELLANECHANTELOT, C
    LEPASLIER, D
    COHEN, D
    PETIT, C
    [J]. HUMAN MOLECULAR GENETICS, 1994, 3 (10) : 1859 - 1866