Linkage studies in X-linked Alport's syndrome.

Human genetics ·Vol. 81 ·No. 1 ·1988-12-00 ·Pages 85-7

Szpiro-Tapia S, Bobrie G, Guilloud-Bataille M, Heuertz S, Julier C, Frézal J, Grünfeld JP, Hors-Cayla MC

Abstract

Four kindreds segregating for Alport's syndrome (ASLN) compatible with a X-linked inheritance were studied for linkage with polymorphic markers of the human X chromosome. No recombinant was observed between the ASLN locus and the DXS101 and DXS94 loci, the maximum lod scores were z = 3.93 and 3.50 respectively. Linkage data between the ASLN locus and the other genetic markers used in the present study are in keeping with the assignment of the mutation to the proximal Xq arm.

MeSH Terms

Adult Female Genetic Linkage Genetic Markers Humans Male Middle Aged Nephritis, Hereditary/genetics Pedigree Polymorphism, Restriction Fragment Length X Chromosome

Chemicals

Genetic Markers

Authors & Affiliations

8 authors, click to expand affiliations / ORCID

Szpiro-Tapia S

Unité de Recherches de Génétique Médicale, INSERM U. 12, Hôpital des Enfants Malades, Paris, France.

Bobrie G

Guilloud-Bataille M

Heuertz S

Julier C

Frézal J

Grünfeld J P

Hors-Cayla M C

References (15)

15 references, click to expand

Investigation of genetic linkage in human families.
Adv Hum Genet. 1987;16:121-228 PMID: 2882656
A strategy to reveal high-frequency RFLPs along the human X chromosome.
Am J Hum Genet. 1984 May;36(3):546-64 PMID: 6328976
Report of the Committee on Methods of Linkage Analysis and Reporting.
Cytogenet Cell Genet. 1985;40(1-4):356-9 PMID: 3864600
Strategies for multilocus linkage analysis in humans.
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6 PMID: 6587361
Alport's syndrome: experience at Hôpital Necker.
Kidney Int Suppl. 1982 May;11:S20-8 PMID: 6956772
X-linked inheritance of Alport syndrome: family P revisited.
Am J Hum Genet. 1983 Nov;35(6):1241-51 PMID: 6650503
Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.
Proc Natl Acad Sci U S A. 1984 May;81(9):2836-9 PMID: 6326147
Genetic heterogeneity among kindreds with Alport syndrome.
Am J Hum Genet. 1986 Jun;38(6):940-53 PMID: 3728466
An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region.
Hum Genet. 1987 Sep;77(1):23-7 PMID: 3476455
Report of the Committee on the Genetic Constitution of the X and Y Chromosomes.
Cytogenet Cell Genet. 1985;40(1-4):296-352 PMID: 3864598
Genetic mapping of nine DNA markers in the q11----q22 region of the human X chromosome.
Genomics. 1987 Sep;1(1):60-6 PMID: 2889662
Genetic heterogeneity of Alport syndrome.
Kidney Int. 1985 Apr;27(4):672-7 PMID: 4010153
The genetics of the Alport syndrome.
Birth Defects Orig Artic Ser. 1974;10(4):93-9 PMID: 4470916
The 1987 Catalog of mapped genes and report of the nomenclature committee.
Cytogenet Cell Genet. 1987;46(1-4):29-101 PMID: 3507279
Genetics of Alport's syndrome.
Pediatr Nephrol. 1987 Jul;1(3):436-8 PMID: 3153314

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00283736

Published

1988-12-00

Pages

85-7

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00283736 View journal details

Analysis Services

Linkage studies in X-linked Alport's syndrome.

Contact

WeChat Official Account