Home LiteratureArticle Details

PMID: 2995237 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome.

Human genetics ·Vol. 71 ·No. 2 ·1985-00-00 ·Pages 93-9

Friedrich U, Warburg M, Wieacker P, Wienker TF, Gal A, Ropers HH

Abstract

A large Danish pedigree segregating for X-linked retinitis pigmentosa (RPX) (Warburg and Simonsen 1968) was restudied for linkage analysis. Using two markers, i.e. the DNA base sequence polymorphism presented by the probe L1.28 defining the chromosomal segment DXS7, and the C-banding heteromorphism (Xcen) (Friedrich 1982), we were able to localize the RPX gene in Xp close to the centromere rather precisely. The gene order could be deduced by three-point linkage analysis, and the gene distances were determined by pairwise analysis using the LIPED program (Ott 1974). Together with previously published data concerning the RPX:DXS7 linkage (Bhattacharya et al. 1984) a regional gene map is constructed. Xcen-11 cM-RPX-6 cM-DXS7.

MeSH Terms

Adolescent Adult Aged Centromere Child Chromosome Mapping Cloning, Molecular DNA/genetics DNA Restriction Enzymes Female Genetic Linkage Genetic Markers Heterozygote Humans Lod Score Male Middle Aged Pedigree Retinitis Pigmentosa/genetics X Chromosome

Chemicals

Genetic Markers DNA DNA Restriction Enzymes

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Friedrich U

Warburg M

Wieacker P

Wienker T F

Gal A

Ropers H H

References (14)

14 references, click to expand

Menkes kinky hair disease: a search for closely linked restriction fragment length polymorphism.
Hum Genet. 1983;64(2):139-42 PMID: 6576980
Sex-linked recessive retinitis pigmentosa. A preliminary study of the carriers.
Acta Ophthalmol (Copenh). 1968;46(3):494-9 PMID: 5304427
Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids.
Am J Hum Genet. 1984 Mar;36(2):265-76 PMID: 6324578
[Retinitis pigmentosa tied to sex, theory of Mary Lyon and the problem of linkage of chorioretinal abiotrophies with the blood group Xg].
Arch Julius Klaus Stift Vererbungsforsch Sozialanthropol Rassenhyg. 1967;42(3-4):84-91 PMID: 5633068
Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.
Am J Hum Genet. 1974 Sep;26(5):588-97 PMID: 4422075
X-linked retinitis pigmentosa and linkage studies with the Xg blood-groups.
Lancet. 1967 May 6;1(7497):974-5 PMID: 4164603
Genetic mapping: X chromosome.
Hum Genet. 1983;64(1):28-32 PMID: 6336311
Linkage studies in X-linked retinitis pigmentosa.
Humangenetik. 1972;14(2):155-8 PMID: 5026847
Use of banding techniques for zygosity diagnosis in twins.
Acta Genet Med Gemellol (Roma). 1977;26(1):89-91 PMID: 71840
On the heredity of retinitis pigmentosa.
Br J Ophthalmol. 1982 Jul;66(7):405-16 PMID: 7093178
Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28.
Nature. 1984 May 17-23;309(5965):253-5 PMID: 6325945
On the genetic length of the short arm of the human X chromosome.
Hum Genet. 1983;65(1):53-5 PMID: 6315564
Prevalence of retinitis pigmentosa in Maine.
Am J Ophthalmol. 1984 Mar;97(3):357-65 PMID: 6702974
X-linked retinitis pigmentosa.
Br J Ophthalmol. 1975 Apr;59(4):177-99 PMID: 1138842

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00283360

Published

1985-00-00

Pages

93-9

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00283360 View journal details

Analysis Services

X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome.

Contact

WeChat Official Account