Genetic mapping of X-linked ocular albinism: Linkage analysis in a large Newfoundland kindred

Journal Article · Thu Apr 01 00:00:00 EST 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1171· OSTI ID:6333059

Charles, S J; Moore, A T; Barton, D E; Yates, J R.W. ^[1]; Green, J S ^[2]

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1. Addenbrooke's Hospital, Cambridge (United Kingdom)
2. Memorial Univ. of Newfoundland, St. John's (Canada)

Genetic linkage studies in a large Newfoundland family affected by X-linked ocular albinism (OA1) showed linkage to markers from Xp22.3. One recombinant mapped the disease proximal to DXS143 (dic56) and two recombinants mapped the disease distal to DXS85 (782). Combining the data with that from 16 British families previously published confirmed close linkage between OA1 and DXS143 (dic56; Z[sub max] = 21.96 at [theta] = 0.01, confidence interval (CI) 0.0005--0.05) and linkage to DXS85 (782; Z[sub max] = 17.60 at [theta] = 0.07, CI = 0.03--0.13) and DXS237 (GMGX9; Z[sub max] = 15.20 at [theta] = 0.08, CI = 0.03--0.15). Multipoint analysis (LINKMAP) gave the most likely order as Xpter-XG-DXS237-DXS143-OA1-DXS85, with odds of 48:1 over the order Xpter-XG-DXS237-OA1-DXS143-DXS85, and odds exceeding 10[sup 10]:1 over other locations for the disease locus. 11 refs., 1 fig., 1 tab.

• OSTI ID: 6333059
• Journal Information: Genomics; (United States), Vol. 16:1; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
EYES
DISEASES
HUMAN POPULATIONS
SCREENING
HUMAN X CHROMOSOME
GENETIC MAPPING
NEWFOUNDLAND
UNITED KINGDOM
BODY
BODY AREAS
CANADA
CHROMOSOMES
DEVELOPED COUNTRIES
EUROPE
FACE
HEAD
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
ISLANDS
MAPPING
NORTH AMERICA
ORGANS
POPULATIONS
SENSE ORGANS
WESTERN EUROPE
X CHROMOSOME
550400* - Genetics