LOCALIZATION OF THE X-LINKED OCULAR ALBINISM GENE (OA1) BETWEEN DXS278/DXS237 AND DXS143/DXS16 BY LINKAGE ANALYSIS

被引：13

作者：

BERGEN, AAB

SAMANNS, C

VANDORP, DB

FERGUSONSMITH, MA

GAL, A

BLEEKERWAGEMAKERS, EM

机构：

[1] The Netherlands Ophthalmic Research Institute, AC, Amsterdam, P.O. Box 12141

[2] Institut für Humangenetik der Universität, 5300, Bonn 1

[3] Department of Ophthalmology, Free University, MB, Amsterdam, P.O. Box 7057

[4] Department of Pathology, Cambridge University, Cambridge, CB2 1QP, Tennis Court Road

来源：

OPHTHALMIC PAEDIATRICS AND GENETICS | 1990年 / 11卷 / 03期

关键词：

DNA probes; Genetic mapping; Linkage analysis; X chromosome; X-linked ocular albinism;

D O I：

10.3109/13816819009020975

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Linkage analysis was performed in six families segregating for X-linked ocular albinism of the Nettleship-Falls type using four polymorphic DNA markers from the distal Xp. Linkage was found between the disease locus (OA1) and the loci DXS237 (θmax = 0.06, zmax = 2.82), DXS278(θmax = 0.03, zmax = 5.27) and DXS16 (θmax = 0.10, zmax = 2.33). The analysis of multiple informative meioses suggests that OA1 maps between DXS278/DXS237 and DXS143/DXS16. Multipoint linkage analysis slightly favours the order DXS278/DXS237-OA1-DXS16. These data refine the genetic localization of OA1 and may be useful for carrier detection in X-linked ocular albinism by DNA analysis. © 1990 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.

引用

页码：165 / 170

页数：6

共 20 条

[1] Van Dorp D.B., Shades of Grey in Human Albinism, (1985)
[2] Garner A., Jay B.S., Macromelanosomes in X-linked ocular albinism, Histopathology, 4, pp. 243-254, (1980)
[3] Szymanski K.A., Boughman J.A., Nance W.E., Olansky D.C., Weinberg R.S., Genetic studies of ocular albinism in a large Virginia kindred, Ann Ophthalmol, 16, pp. 183-196, (1984)
[4] O'Donnell F.E., King R.A., Green W.R., Witkop C.J., Autosomal recessively inherited ocular albinism: A new form of ocular albinism affecting females as severely as males, Arch Ophthalmol, 96, pp. 1621-1625, (1978)
[5] Waardenburg P.J., Van den B., X-chromosomal ocular albinism in a Dutch family, Ann Hum Genet, 21, pp. 101-122, (1956)
[6] Waardenburg P.J., Remarkable Facts in Human Albinism and Leukism, (1970)
[7] O'Donnell F.E., Green W.R., Fleischman J.A., Hambrick G.W., X-linked ocular albinism in blacks: Ocular albinism cum pigmento, Arch Ophthalmol, 96, pp. 1189-1192, (1978)
[8] Pearce W.G., Johnson G.J., Sanger R., Ocular albinism and Xg, The Lancet, 1, (1971)
[9] Kidd J.R., Pakstis A.J., Gusella J., Et al., Mapping of the locus for X-linked ocular albinism, Am J Hum Genet, 37, (1985)
[10] Graham J.M., de Martinville B., Volpe M.A., Et al., Clinical findings and linkage analysis in X-linked ocular albinism, Am J Hum Genet, 41, (1987)

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