Scholars@Duke publication: An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS.

An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS.

Publication , Journal Article

Van de Vosse, E; Bergen, AA; Meershoek, EJ; Oosterwijk, JC; Gregory, S; Bakker, B; Weissenbach, J; Coffey, AJ; van Ommen, GJ; Den Dunnen, JT

Published in: Eur J Hum Genet

1996

Published version (DOI) Link to item

To facilitate the positional cloning of the genes involved in retinoschisis (RS), keratosis follicularis spinulosa decalvans (KFSD), Coffin-Lowry syndrome (CLS), X-linked hypophosphatemic rickets (XLH, locus name HYP) and X-linked dominant cone-rod degeneration (locus name RP15), we have extended the molecular map of the Xp22 region. Screening of several YAC libraries allowed us to identify 156 YACs, 52 of which localize between markers DXS414 (P90) and DXS451 (kQST80H1). Analysis of their marker content facilitated the construction of a YAC contig from the region spanning (in this order): DXS414 - DXS987 - DXS207 - DXS1053 - DXS197 - DXS 43 - DXS1195 - DXS418 - DXS999 - PDHA1 - DXS7161 - DXS443 - DXS 7592 - DXS1229 - DXS365 - DXS7101 - DXS7593 - DXS1052 - DXS274 - DXS989 - DXS451. The region between DXS414 and DXS451 covers about 4.5-5 Mb. Two additional markers (DXS7593 and DXS7592) were placed in the region, thereby increasing the genetic resolution. Using the deduced marker order, the analysis of key recombinants in families segregating RS allowed us to refine the critical region for RS to 0.6 Mb, between DXS418 and DXS7161.

Duke Scholars

Author Simon Gray Gregory Neurosurgery

Published In

Eur J Hum Genet

DOI

10.1159/000472177

ISSN

1018-4813

Publication Date

1996

Volume

Issue

Start / End Page

101 / 104

Location

England

Related Subject Headings

X Chromosome
Syndrome
Retinal Degeneration
Pedigree
Male
Hypophosphatemia, Familial
Humans
Genetics & Heredity
Female
Darier Disease

Citation

APA

Chicago

ICMJE

MLA

NLM

Van de Vosse, E., Bergen, A. A., Meershoek, E. J., Oosterwijk, J. C., Gregory, S., Bakker, B., … Den Dunnen, J. T. (1996). An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. Eur J Hum Genet, 4(2), 101–104. https://doi.org/10.1159/000472177

Van de Vosse, E., A. A. Bergen, E. J. Meershoek, J. C. Oosterwijk, S. Gregory, B. Bakker, J. Weissenbach, A. J. Coffey, G. J. van Ommen, and J. T. Den Dunnen. “An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS.” Eur J Hum Genet 4, no. 2 (1996): 101–4. https://doi.org/10.1159/000472177.

Van de Vosse E, Bergen AA, Meershoek EJ, Oosterwijk JC, Gregory S, Bakker B, et al. An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. Eur J Hum Genet. 1996;4(2):101–4.

Van de Vosse, E., et al. “An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS.” Eur J Hum Genet, vol. 4, no. 2, 1996, pp. 101–04. Pubmed, doi:10.1159/000472177.

Van de Vosse E, Bergen AA, Meershoek EJ, Oosterwijk JC, Gregory S, Bakker B, Weissenbach J, Coffey AJ, van Ommen GJ, Den Dunnen JT. An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. Eur J Hum Genet. 1996;4(2):101–104.

Published In

Eur J Hum Genet

DOI

10.1159/000472177

ISSN

1018-4813

Publication Date

1996

Volume

Issue

Start / End Page

101 / 104

Location

England

Related Subject Headings

X Chromosome
Syndrome
Retinal Degeneration
Pedigree
Male
Hypophosphatemia, Familial
Humans
Genetics & Heredity
Female
Darier Disease