EXCLUSION OF COL2A1 AS A CANDIDATE GENE IN A FAMILY WITH WAGNER-STICKLER SYNDROME

被引：39

作者：

FRYER, AE

UPADHYAYA, M

LITTLER, M

BACON, P

WATKINS, D

TSIPOURAS, P

HARPER, PS

机构：

[1] UNIV HOSP WALES,DEPT OPHTHALMOL,CARDIFF CF4 4XW,S GLAM,WALES

[2] UNIV CONNECTICUT,CTR HLTH,DEPT PEDIAT,FARMINGTON,CT 06032

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 02期

关键词：

D O I：

10.1136/jmg.27.2.91

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A large family with Wagner's vitreoretinal degeneration but none of the non-ocular features of Stickler's syndrome has been studied with gene probes for type II collagen. Recombination has been observed, thus excluding type II collagen as the site of mutation in this family. This report supports other published evidence that the Wagner-Stickler syndrome is genetically heterogeneous.

引用

页码：91 / 93

页数：3

共 11 条

[1] DELANEY WV, 1963, ARCH OPHTHALMOL-CHIC, V69, P44
[2] FRANCOMANO C A, 1987, Genomics, V1, P293, DOI 10.1016/0888-7543(87)90027-9
[3] FRANCOMANO C A, 1988, American Journal of Human Genetics, V43, pA83
[4] JANSEN L. M. A. A., 1962, OPHTHALMOLOGICA, V144, P458
[5] THE WAGNER-STICKLER SYNDROME - A STUDY OF 22 FAMILIES
LIBERFARB, RM
HIROSE, T
HOLMES, LB
[J]. JOURNAL OF PEDIATRICS, 1981, 99 (03) : 394 - 399
[6] VITREORETINAL DEGENERATION AS A SIGN OF GENERALIZED CONNECTIVE-TISSUE DISEASES
MAUMENEE, IH
[J]. AMERICAN JOURNAL OF OPHTHALMOLOGY, 1979, 88 (03) : 432 - 449
[7] ISOLATION AND PARTIAL CHARACTERIZATION OF THE ENTIRE HUMAN PRO-ALPHA-1(II) COLLAGEN GENE
SANGIORGI, FO
BENSONCHANDA, V
DEWET, WJ
SOBEL, ME
TSIPOURAS, P
RAMIREZ, F
[J]. NUCLEIC ACIDS RESEARCH, 1985, 13 (07) : 2207 - 2225
[8] STICKLER GB, 1965, MAYO CLIN PROC, V40, P433
[9] A 3 ALLELE RESTRICTION FRAGMENT LENGTH POLYMORPHISM WITHIN THE HUMAN COL2A1 GENE
STROM, CM
[J]. NUCLEIC ACIDS RESEARCH, 1988, 16 (18) : 9077 - 9077
[10] SYKES BC, 1983, DIS MARKERS, V1, P141

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