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 |
|---|---|
| Pages (from-to) | 843-848 |
| Number of pages | 6 |
| Journal | Journal of Medical Genetics |
| Volume | 30 |
| Issue number | 10 |
| State | Published - 1993 |
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All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)
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Genetic heterogeneity of Usher syndrome type II. / Dahl, S. Pieke; Kimberling, W. J.; Gorin, M. B.; Weston, Michael; Furman, J. M R; Pikus, A.; Möller, C.
In: Journal of Medical Genetics, Vol. 30, No. 10, 1993, p. 843-848.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Genetic heterogeneity of Usher syndrome type II
AU - Dahl, S. Pieke
AU - Kimberling, W. J.
AU - Gorin, M. B.
AU - Weston, Michael
AU - Furman, J. M R
AU - Pikus, A.
AU - Möller, 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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UR - http://www.scopus.com/inward/citedby.url?scp=0027422082&partnerID=8YFLogxK
M3 - Article
VL - 30
SP - 843
EP - 848
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
SN - 0022-2593
IS - 10
ER -