Genetic heterogeneity of Usher syndrome type II

S. P. Dahl; W. J. Kimberling; M. B. Gorin; M. D. Weston; J. M.R. Furman; A. Pikus; C. Moller

Genetic heterogeneity of Usher syndrome type II

S. P. Dahl, W. J. Kimberling, M. B. Gorin, M. D. Weston, J. M.R. Furman, A. Pikus, C. Moller

Department of Oral Biology

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Abstract

Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome Iq32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type II was genotyped using markers spanning the 1q32-1q41 region. These included D1S70 and D1S81, which are believed to flank USH2. Genotypic results and subsequent linkage analysis indicated non-linkage of this family to these markers. The A test analysis for heterogeneity with this family and 32 other Usher type II families was statistically significant at p

Original language	English (US)
Pages (from-to)	843-848
Number of pages	6
Journal	Journal of Medical Genetics
Volume	30
Issue number	10
State	Published - 1993

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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title = "Genetic heterogeneity of Usher syndrome type II",

abstract = "Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome Iq32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type II was genotyped using markers spanning the 1q32-1q41 region. These included D1S70 and D1S81, which are believed to flank USH2. Genotypic results and subsequent linkage analysis indicated non-linkage of this family to these markers. The A test analysis for heterogeneity with this family and 32 other Usher type II families was statistically significant at p",

author = "Dahl, {S. P.} and Kimberling, {W. J.} and Gorin, {M. B.} and Weston, {M. D.} and Furman, {J. M.R.} and A. Pikus and C. Moller",

year = "1993",

language = "English (US)",

volume = "30",

pages = "843--848",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

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T1 - Genetic heterogeneity of Usher syndrome type II

AU - Dahl, S. P.

AU - Kimberling, W. J.

AU - Gorin, M. B.

AU - Weston, M. D.

AU - Furman, J. M.R.

AU - Pikus, A.

AU - Moller, C.

PY - 1993

Y1 - 1993

N2 - Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome Iq32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type II was genotyped using markers spanning the 1q32-1q41 region. These included D1S70 and D1S81, which are believed to flank USH2. Genotypic results and subsequent linkage analysis indicated non-linkage of this family to these markers. The A test analysis for heterogeneity with this family and 32 other Usher type II families was statistically significant at p

AB - Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome Iq32-q41. DNA from a family with four of seven sibs affected with clinical characteristics of Usher syndrome type II was genotyped using markers spanning the 1q32-1q41 region. These included D1S70 and D1S81, which are believed to flank USH2. Genotypic results and subsequent linkage analysis indicated non-linkage of this family to these markers. The A test analysis for heterogeneity with this family and 32 other Usher type II families was statistically significant at p

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