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Article

Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan.

Clinical genetics - 1 Mar 1995

Leutelt J, Oehlmann R, Younus F, van den Born L I, Weber J L, Denton M J, Mehdi S Q, Gal A

Abstract excerpt

A large Pakistani family with several consanguineous marriages is described, in which autosomal recessive retinitis pigmentosa is segregating. Linkage studies revealed close linkage between the disease locus and six loci on chromosome 1q (D1S158, F13B, D1S422, D1S412, D1S413, and D1S53) with maximum lod scores ranging from 0.988-4.657 at theta = 0.065-0.235. However, the analysis of individual nuclear families...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 1
Consanguinity
Female
Genes, Recessive
Genetic Linkage
Heterozygote
Homozygote
Humans
Lod Score
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pakistan

Pedigree

Phenotype

Polymorphism, Genetic

Retinitis Pigmentosa

Source

Identifiers

PMID: 7634534
DOI: 10.1111/j.1399-0004.1995.tb03943.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7634534-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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