Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21

N M Ghiasvand; A B Kanis; C Helms; V C Sheffield; E M Stone; H Donis-Keller

doi:10.1002/(SICI)1096-8628(20000117)90:2<165::AID-AJMG15>3.0.CO;2-O

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Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21

Journal article

Peer reviewed

Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21

N M Ghiasvand, A B Kanis, C Helms, V C Sheffield, E M Stone and H Donis-Keller

American journal of medical genetics, Vol.90(2), pp.165-168

01/17/2000

DOI: 10.1002/(SICI)1096-8628(20000117)90:2<165::AID-AJMG15>3.0.CO;2-O

PMID: 10607958

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Abstract

Nonsyndromic congenital retinal nonattachment (NCRNA) comprises congenital insensitivity to light, massive retrolental mass, shallow anterior chamber, microphthalmia, and nystagmus. We searched for the location of the gene responsible for an autosomal recessive form of NCRNA by using DNA samples from 36 individuals from a founding population. To this end we applied homozygosity mapping and a DNA pooling strategy using genomewide screen polymorphic microsatellite markers. We used two DNA pools, one pool contained DNA from 16 individuals affected with NCRNA. The second pool contained DNA from 20 normal carrier individuals, the parents of the patients. The polymorphic microsatellite markers were polymerase chain reaction (PCR)-amplified in each DNA pool; the PCR products were electrophoresed on polyacrylamide gels and visualized by silver staining. The banding patterns from DNA pools of affected and unaffected persons were compared, and linkage was detected between the NCRNA and D10S1225, a marker in 10q21. To confirm linkage of NCRNA to chromosome 10q21 by homozygosity mapping, the patients and their carrier parents were genotyped for a number of other microsatellite polymorphic markers in the 10q21region. Statistically significant linkage was observed with multiple polymorphic markers in the 10q21 region. At straight theta = 0 with markers D10S1225, D10S1428, D10S1422, and D10S1418 maximum LOD scores of 3.74, 3.58, 3. 79, and 3.48 were generated, respectively. TDT P values for markers D10S1225 and D10S1418 were 0.0000021 and 0.000021, respectively.

Chromosome Banding

Pedigree

DNA

Humans

Retinal Detachment - congenital

Female

Genotype

Male

Chromosome Mapping

Genome

Retinal Detachment - genetics

Chromosomes, Human, Pair 10

Details

Title: Subtitle: Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21
Creators: N M Ghiasvand - Division of Human Molecular Genetics, Department of Surgery, Washington University School of Medicine, St Louis, Missouri, USA. nghiasvand@yahoo.com
A B Kanis
C Helms
V C Sheffield
E M Stone
H Donis-Keller
Resource Type: Journal article
Publication Details: American journal of medical genetics, Vol.90(2), pp.165-168
DOI: 10.1002/(SICI)1096-8628(20000117)90:2<165::AID-AJMG15>3.0.CO;2-O
PMID: 10607958
NLM abbreviation: Am J Med Genet
ISSN: 0148-7299
eISSN: 1096-8628
Publisher: Wiley; United States
Grant note: 5F33-EY06846-02 / NEI NIH HHS
Language: English
Date published: 01/17/2000
Academic Unit: Infectious Diseases; Health Management and Policy; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Internal Medicine; Ophthalmology and Visual Sciences
Record Identifier: 9983979919002771

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