Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis

A. A. Bergen; E. J. Schuurman; L. I. van den Born; C. Samanns; D. B. van Dorp; A. J. Pinckers; E. Bakker; G. J. van Ommen; A. Gal; E. M. Bleeker-Wagemakers

Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis

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

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

X-linked ocular albinism (XOA) is characterized by anomalies of the eyes and hypopigmentation or absence of pigment in skin, hair and eyes due to a hereditary inborn error of metabolism affecting the pigment cells. The gene of XOA of the Nettleship-Falls type (OA1) has been mapped to Xp22.3, and several closely linked RFLP loci have been identified. Linkage analysis and deletion mapping have established the marker gene order Xpter-STS-DX237-(OA1,DXS143,DXS85)-DXS1 6-DXS43-Xcen. Although the position of OA1 has yet not been fully resolved, we report on the first carrier detections in OXA of the Nettleship-Falls type by DNA analysis using markers which unquestionably flank OA1

Original language	English
Pages (from-to)	135-138
Journal	Clinical genetics
Volume	41
Issue number	3
Publication status	Published - 1992

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@article{89e4ad75db7448bdb3024d65b39a6ff8,

title = "Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis",

abstract = "X-linked ocular albinism (XOA) is characterized by anomalies of the eyes and hypopigmentation or absence of pigment in skin, hair and eyes due to a hereditary inborn error of metabolism affecting the pigment cells. The gene of XOA of the Nettleship-Falls type (OA1) has been mapped to Xp22.3, and several closely linked RFLP loci have been identified. Linkage analysis and deletion mapping have established the marker gene order Xpter-STS-DX237-(OA1,DXS143,DXS85)-DXS1 6-DXS43-Xcen. Although the position of OA1 has yet not been fully resolved, we report on the first carrier detections in OXA of the Nettleship-Falls type by DNA analysis using markers which unquestionably flank OA1",

author = "Bergen, \{A. A.\} and Schuurman, \{E. J.\} and \{van den Born\}, \{L. I.\} and C. Samanns and \{van Dorp\}, \{D. B.\} and Pinckers, \{A. J.\} and E. Bakker and \{van Ommen\}, \{G. J.\} and A. Gal and Bleeker-Wagemakers, \{E. M.\}",

year = "1992",

language = "English",

volume = "41",

pages = "135--138",

journal = "Clinical genetics",

issn = "0009-9163",

publisher = "Wiley Blackwell",

number = "3",

}

TY - JOUR

T1 - Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis

AU - Bergen, A. A.

AU - Schuurman, E. J.

AU - van den Born, L. I.

AU - Samanns, C.

AU - van Dorp, D. B.

AU - Pinckers, A. J.

AU - Bakker, E.

AU - van Ommen, G. J.

AU - Gal, A.

AU - Bleeker-Wagemakers, E. M.

PY - 1992

Y1 - 1992

N2 - X-linked ocular albinism (XOA) is characterized by anomalies of the eyes and hypopigmentation or absence of pigment in skin, hair and eyes due to a hereditary inborn error of metabolism affecting the pigment cells. The gene of XOA of the Nettleship-Falls type (OA1) has been mapped to Xp22.3, and several closely linked RFLP loci have been identified. Linkage analysis and deletion mapping have established the marker gene order Xpter-STS-DX237-(OA1,DXS143,DXS85)-DXS1 6-DXS43-Xcen. Although the position of OA1 has yet not been fully resolved, we report on the first carrier detections in OXA of the Nettleship-Falls type by DNA analysis using markers which unquestionably flank OA1

AB - X-linked ocular albinism (XOA) is characterized by anomalies of the eyes and hypopigmentation or absence of pigment in skin, hair and eyes due to a hereditary inborn error of metabolism affecting the pigment cells. The gene of XOA of the Nettleship-Falls type (OA1) has been mapped to Xp22.3, and several closely linked RFLP loci have been identified. Linkage analysis and deletion mapping have established the marker gene order Xpter-STS-DX237-(OA1,DXS143,DXS85)-DXS1 6-DXS43-Xcen. Although the position of OA1 has yet not been fully resolved, we report on the first carrier detections in OXA of the Nettleship-Falls type by DNA analysis using markers which unquestionably flank OA1

M3 - Article

C2 - 1348665

SN - 0009-9163

VL - 41

SP - 135

EP - 138

JO - Clinical genetics

JF - Clinical genetics

IS - 3

ER -

Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis

Abstract

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