CONFIRMATION OF X-LINKED INHERITANCE AND PROVISIONAL MAPPING OF THE KERATOSIS FOLLICULARIS SPINULOSA DECALVANS GENE ON XP IN A LARGE DUTCH FAMILY

JC Oosterwijk; M NELEN; PM VANZANDVOORT; LDM VANOSCH; AP ORANJE; D WITTEBOLPOST; BA VANOOST

doi:10.3109/13816819209070050

CONFIRMATION OF X-LINKED INHERITANCE AND PROVISIONAL MAPPING OF THE KERATOSIS FOLLICULARIS SPINULOSA DECALVANS GENE ON XP IN A LARGE DUTCH FAMILY

JC Oosterwijk, M NELEN, PM VANZANDVOORT, LDM VANOSCH, AP ORANJE, D WITTEBOLPOST, BA VANOOST

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

5 Citations (Scopus)

Abstract

In a large Dutch family with keratosis follicularis spinulosa decalvans (KFSD, MIM 308800), DNA linkage analysis was performed in order to locate the gene. Pedigree analysis and lod score calculation confirmed X-linked inheritance and revealed significant linkage to DNA markers on Xp. A maximum lod score of 5.70 at THETA = 0.0 was obtained with DXS41 (p99.6). The KFSD gene is tentatively located on Xp21.2-p22.2.

Original language	English
Pages (from-to)	27-30
Number of pages	4
Journal	Ophthalmic Paediatrics and Genetics
Volume	13
Issue number	1
DOIs	https://doi.org/10.3109/13816819209070050
Publication status	Published - Mar-1992

Keywords

KERATOSIS-FOLLICULARIS-SPINULOSA DECALVANS
SIEMENS-I-SYNDROME
GENE MAPPING
X-LINKED INHERITANCE
CARRIER DETECTION
CORNEA DEGENERATION

Access to Document

10.3109/13816819209070050

Cite this

@article{43c62c1971ec4f7aaf96227f3b422e05,

title = "CONFIRMATION OF X-LINKED INHERITANCE AND PROVISIONAL MAPPING OF THE KERATOSIS FOLLICULARIS SPINULOSA DECALVANS GENE ON XP IN A LARGE DUTCH FAMILY",

abstract = "In a large Dutch family with keratosis follicularis spinulosa decalvans (KFSD, MIM 308800), DNA linkage analysis was performed in order to locate the gene. Pedigree analysis and lod score calculation confirmed X-linked inheritance and revealed significant linkage to DNA markers on Xp. A maximum lod score of 5.70 at THETA = 0.0 was obtained with DXS41 (p99.6). The KFSD gene is tentatively located on Xp21.2-p22.2.",

keywords = "KERATOSIS-FOLLICULARIS-SPINULOSA DECALVANS, SIEMENS-I-SYNDROME, GENE MAPPING, X-LINKED INHERITANCE, CARRIER DETECTION, CORNEA DEGENERATION",

author = "JC Oosterwijk and M NELEN and PM VANZANDVOORT and LDM VANOSCH and AP ORANJE and D WITTEBOLPOST and BA VANOOST",

year = "1992",

month = mar,

doi = "10.3109/13816819209070050",

language = "English",

volume = "13",

pages = "27--30",

journal = "Ophthalmic Paediatrics and Genetics",

issn = "0167-6784",

number = "1",

}

CONFIRMATION OF X-LINKED INHERITANCE AND PROVISIONAL MAPPING OF THE KERATOSIS FOLLICULARIS SPINULOSA DECALVANS GENE ON XP IN A LARGE DUTCH FAMILY. / Oosterwijk, JC; NELEN, M; VANZANDVOORT, PM; VANOSCH, LDM; ORANJE, AP; WITTEBOLPOST, D; VANOOST, BA.

In: Ophthalmic Paediatrics and Genetics, Vol. 13, No. 1, 03.1992, p. 27-30.

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

TY - JOUR

T1 - CONFIRMATION OF X-LINKED INHERITANCE AND PROVISIONAL MAPPING OF THE KERATOSIS FOLLICULARIS SPINULOSA DECALVANS GENE ON XP IN A LARGE DUTCH FAMILY

AU - Oosterwijk, JC

AU - NELEN, M

AU - VANZANDVOORT, PM

AU - VANOSCH, LDM

AU - ORANJE, AP

AU - WITTEBOLPOST, D

AU - VANOOST, BA

PY - 1992/3

Y1 - 1992/3

N2 - In a large Dutch family with keratosis follicularis spinulosa decalvans (KFSD, MIM 308800), DNA linkage analysis was performed in order to locate the gene. Pedigree analysis and lod score calculation confirmed X-linked inheritance and revealed significant linkage to DNA markers on Xp. A maximum lod score of 5.70 at THETA = 0.0 was obtained with DXS41 (p99.6). The KFSD gene is tentatively located on Xp21.2-p22.2.

AB - In a large Dutch family with keratosis follicularis spinulosa decalvans (KFSD, MIM 308800), DNA linkage analysis was performed in order to locate the gene. Pedigree analysis and lod score calculation confirmed X-linked inheritance and revealed significant linkage to DNA markers on Xp. A maximum lod score of 5.70 at THETA = 0.0 was obtained with DXS41 (p99.6). The KFSD gene is tentatively located on Xp21.2-p22.2.

KW - KERATOSIS-FOLLICULARIS-SPINULOSA DECALVANS

KW - SIEMENS-I-SYNDROME

KW - GENE MAPPING

KW - X-LINKED INHERITANCE

KW - CARRIER DETECTION

KW - CORNEA DEGENERATION

U2 - 10.3109/13816819209070050

DO - 10.3109/13816819209070050

M3 - Article

VL - 13

SP - 27

EP - 30

JO - Ophthalmic Paediatrics and Genetics

JF - Ophthalmic Paediatrics and Genetics

SN - 0167-6784

IS - 1

ER -