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Article

Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.

Human genetics - 1 Dec 1991

Bergen A A, Samanns C, Schuurman E J, van Osch L, van Dorp D B, Pinckers A J, Bakker E, Gal A, van Ommen G J, Bleeker-Wagemakers E M

Abstract excerpt

An extensive linkage analysis was performed by studying ten Xp22 loci in ten families segregating for X-linked ocular albinism of the Nettleship-Falls type (XOA). Linkage was confirmed between the XOA locus (OA1) and both DXS16 (theta max = 0.10, zeta max = 4.09) and DXS237 (theta max = 0.12, zeta max = 2.53). Linkage was found between OA1 and the loci DXS85 (theta max = 0.00, zeta max = zeta max = 4.37), DXS143...

Topics

Albinism, Ocular
Alleles
Blotting, Southern
DNA Restriction Enzymes
Female
Gene Frequency
Genetic Linkage
Genetic Markers
Humans
Male
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

X Chromosome

Source

Identifiers

PMID: 1684563
DOI: 10.1007/BF00206065

Genes

STS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1684563-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.PMID 1684563Read ↗

Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis.Semantic proximity Read ↗

Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.Semantic proximity Read ↗

Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.Semantic proximity Read ↗

OA1 mutations and deletions in X-linked ocular albinism.Semantic proximity Read ↗

The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another closely linked marker locus, OATL1.Semantic proximity Read ↗

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.Semantic proximity Read ↗

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The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13).Semantic proximity Read ↗

Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families.Semantic proximity Read ↗

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