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X连锁的奈特利希普-福尔斯型眼部白化病的多点连锁分析。

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

作者信息

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

机构信息

The Netherlands Ophthalmic Research Institute, Amsterdam.

出版信息

Hum Genet. 1991 Dec;88(2):162-6. doi: 10.1007/BF00206065.

DOI:10.1007/BF00206065
PMID:1684563
Abstract

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 (theta max = 0.04, zeta max = 3.74), STS (theta max = 0.05, zeta max = 2.48), DXF30S1 (DXS278) (theta max = 0.07, zeta max = 8.79) and DXF30S2/3 (DXS278) (theta max = 0.00, zeta max = 14.93). An indication for linkage was found between OA1 and the loci DXS43 (theta max = 0.10, zeta max = 1.58) and DXS31 (theta max = 0.12, zeta max = 1.55). The analysis of multiple informative meioses suggests the order Xpter-(DXS31, DXS89)-(DXF30S1, DXS237)-(DXF30S2/3, OA1)-DXS143-(DXS16, DXS43)-Xcen. Various multipoint linkage analyses using the DNA loci order DXF30S1-STS-DXS237-DXS143-DXS16 significantly favour the position of OA1 between DXS237 and DXS143. These results further determine the genetic map around the XOA locus on the distal Xp and may be useful for DNA diagnosis in families with XOA.

摘要

通过研究10个家系中10个Xp22位点，对奈特尔斯希普-福尔斯型（XOA）X连锁眼部白化病进行了广泛的连锁分析。在XOA位点（OA1）与DXS16（最大θ值 = 0.10，最大ζ值 = 4.09）和DXS237（最大θ值 = 0.12，最大ζ值 = 2.53）之间均证实存在连锁关系。在OA1与DXS85（最大θ值 = 0.00，最大ζ值 = 4.37）、DXS143（最大θ值 = 0.04，最大ζ值 = 3.74）、STS（最大θ值 = 0.05，最大ζ值 = 2.48）、DXF30S1（DXS278）（最大θ值 = 0.07，最大ζ值 = 8.79）和DXF30S2/3（DXS278）（最大θ值 = 0.00，最大ζ值 = 14.93）位点之间发现了连锁关系。在OA1与DXS43（最大θ值 = 0.10，最大ζ值 = 1.58）和DXS

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