Linkage studies of Best's macular dystrophy

Freda E. Yoder; Harold E. Cross; Gary A. Chase; Stuart L. Fine; Linda Freidhoff; Carol H. Machan; Wilma B. Bias

doi:10.1111/j.1399-0004.1988.tb02611.x

Linkage studies of Best's macular dystrophy

Freda E. Yoder, Harold E. Cross, Gary A. Chase, Stuart L. Fine, Linda Freidhoff, Carol H. Machan, Wilma B. Bias

Ophthalmology and Vision Sciences

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

Genetic linkage studies are presented for nine kindreds with Best's vitelliform macular dystrophy (BVMD). This condition is an autosomal dominant macular dystrophy with reduced penetrance and highly variable expressivity. Asymptomatic carriers were identified with electrooculography, fundus photographs and fluorescein angiography. Blood and saliva specimens were obtained from informative family members and genotyped for 26 polymorphic genetic traits. No firm evidence was found for linkage between BVMD and 18 informative markers; the highest positive lod score was z=0.57 for GPT1 at a recombination fraction of θ=0.30. An atypical form of vitelliform macular dystrophy (VMD‐1) is linked to GPT1 (θ<0.05) and is provisionally assigned to chromosome 16pter‐p11. Our data are not sufficient to rule out loose linkage for GPT1 and BVMD. Thus we were not able to determine whether BVMD and VMD‐1 are allelic mutations or separate genetic disorders. Additional linkage and gene mapping studies of these loci and BVMD (as well as other atypical forms of macular dystrophy) would be useful to further delineate these disorders.

Original language	English (US)
Pages (from-to)	26-30
Number of pages	5
Journal	Clinical Genetics
Volume	34
Issue number	1
DOIs	https://doi.org/10.1111/j.1399-0004.1988.tb02611.x
State	Published - Jul 1988

Keywords

Best's disease
electro‐oculogram
hereditary retinal dystrophy
macular dystrophy
vitelliform macular dystrophy

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/j.1399-0004.1988.tb02611.x

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title = "Linkage studies of Best's macular dystrophy",

abstract = "Genetic linkage studies are presented for nine kindreds with Best's vitelliform macular dystrophy (BVMD). This condition is an autosomal dominant macular dystrophy with reduced penetrance and highly variable expressivity. Asymptomatic carriers were identified with electrooculography, fundus photographs and fluorescein angiography. Blood and saliva specimens were obtained from informative family members and genotyped for 26 polymorphic genetic traits. No firm evidence was found for linkage between BVMD and 18 informative markers; the highest positive lod score was z=0.57 for GPT1 at a recombination fraction of θ=0.30. An atypical form of vitelliform macular dystrophy (VMD‐1) is linked to GPT1 (θ<0.05) and is provisionally assigned to chromosome 16pter‐p11. Our data are not sufficient to rule out loose linkage for GPT1 and BVMD. Thus we were not able to determine whether BVMD and VMD‐1 are allelic mutations or separate genetic disorders. Additional linkage and gene mapping studies of these loci and BVMD (as well as other atypical forms of macular dystrophy) would be useful to further delineate these disorders.",

keywords = "Best's disease, electro‐oculogram, hereditary retinal dystrophy, macular dystrophy, vitelliform macular dystrophy",

author = "Yoder, {Freda E.} and Cross, {Harold E.} and Chase, {Gary A.} and Fine, {Stuart L.} and Linda Freidhoff and Machan, {Carol H.} and Bias, {Wilma B.}",

year = "1988",

month = jul,

doi = "10.1111/j.1399-0004.1988.tb02611.x",

language = "English (US)",

volume = "34",

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T1 - Linkage studies of Best's macular dystrophy

AU - Yoder, Freda E.

AU - Cross, Harold E.

AU - Chase, Gary A.

AU - Fine, Stuart L.

AU - Freidhoff, Linda

AU - Machan, Carol H.

AU - Bias, Wilma B.

PY - 1988/7

Y1 - 1988/7

N2 - Genetic linkage studies are presented for nine kindreds with Best's vitelliform macular dystrophy (BVMD). This condition is an autosomal dominant macular dystrophy with reduced penetrance and highly variable expressivity. Asymptomatic carriers were identified with electrooculography, fundus photographs and fluorescein angiography. Blood and saliva specimens were obtained from informative family members and genotyped for 26 polymorphic genetic traits. No firm evidence was found for linkage between BVMD and 18 informative markers; the highest positive lod score was z=0.57 for GPT1 at a recombination fraction of θ=0.30. An atypical form of vitelliform macular dystrophy (VMD‐1) is linked to GPT1 (θ<0.05) and is provisionally assigned to chromosome 16pter‐p11. Our data are not sufficient to rule out loose linkage for GPT1 and BVMD. Thus we were not able to determine whether BVMD and VMD‐1 are allelic mutations or separate genetic disorders. Additional linkage and gene mapping studies of these loci and BVMD (as well as other atypical forms of macular dystrophy) would be useful to further delineate these disorders.

AB - Genetic linkage studies are presented for nine kindreds with Best's vitelliform macular dystrophy (BVMD). This condition is an autosomal dominant macular dystrophy with reduced penetrance and highly variable expressivity. Asymptomatic carriers were identified with electrooculography, fundus photographs and fluorescein angiography. Blood and saliva specimens were obtained from informative family members and genotyped for 26 polymorphic genetic traits. No firm evidence was found for linkage between BVMD and 18 informative markers; the highest positive lod score was z=0.57 for GPT1 at a recombination fraction of θ=0.30. An atypical form of vitelliform macular dystrophy (VMD‐1) is linked to GPT1 (θ<0.05) and is provisionally assigned to chromosome 16pter‐p11. Our data are not sufficient to rule out loose linkage for GPT1 and BVMD. Thus we were not able to determine whether BVMD and VMD‐1 are allelic mutations or separate genetic disorders. Additional linkage and gene mapping studies of these loci and BVMD (as well as other atypical forms of macular dystrophy) would be useful to further delineate these disorders.

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KW - vitelliform macular dystrophy

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Linkage studies of Best's macular dystrophy

Abstract

Keywords

ASJC Scopus subject areas

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