Allele frequencies of dna markers genetically linked to friedreich ataxia in the german population

Christine Zühlke; Ulrike Thies

doi:10.1159/000154121

Allele frequencies of dna markers genetically linked to friedreich ataxia in the german population

Christine Zühlke^*, Ulrike Thies

^*Corresponding author for this work

Institute of Human Genetics

Abstract

Friedreich ataxia (FRDA) is a recessive neurodegenerative disorder affecting both central and peripheral nervous systems. The mutation was mapped to chromosome 9 by its tight linkage to the polymorphic loci D9S5 and D9S15. Using informative DNA markers the allele frequencies at these loci, in up to 84 unrelated healthy persons and in 16 FRDA patients of German origin, were determined. The comparison to data from other European populations did not reveal remarkable differences. No significant linkage disequilibrium could be observed between FRDA and the loci D9S5 and D9S15 in German families.

Original language	English
Journal	Human Heredity
Volume	43
Issue number	2
Pages (from-to)	78-81
Number of pages	4
ISSN	0001-5652
DOIs	https://doi.org/10.1159/000154121
Publication status	Published - 1993

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Research Area: Medical Genetics

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abstract = "Friedreich ataxia (FRDA) is a recessive neurodegenerative disorder affecting both central and peripheral nervous systems. The mutation was mapped to chromosome 9 by its tight linkage to the polymorphic loci D9S5 and D9S15. Using informative DNA markers the allele frequencies at these loci, in up to 84 unrelated healthy persons and in 16 FRDA patients of German origin, were determined. The comparison to data from other European populations did not reveal remarkable differences. No significant linkage disequilibrium could be observed between FRDA and the loci D9S5 and D9S15 in German families.",

author = "Christine Z{\"u}hlke and Ulrike Thies",

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AU - Zühlke, Christine

AU - Thies, Ulrike

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N2 - Friedreich ataxia (FRDA) is a recessive neurodegenerative disorder affecting both central and peripheral nervous systems. The mutation was mapped to chromosome 9 by its tight linkage to the polymorphic loci D9S5 and D9S15. Using informative DNA markers the allele frequencies at these loci, in up to 84 unrelated healthy persons and in 16 FRDA patients of German origin, were determined. The comparison to data from other European populations did not reveal remarkable differences. No significant linkage disequilibrium could be observed between FRDA and the loci D9S5 and D9S15 in German families.

AB - Friedreich ataxia (FRDA) is a recessive neurodegenerative disorder affecting both central and peripheral nervous systems. The mutation was mapped to chromosome 9 by its tight linkage to the polymorphic loci D9S5 and D9S15. Using informative DNA markers the allele frequencies at these loci, in up to 84 unrelated healthy persons and in 16 FRDA patients of German origin, were determined. The comparison to data from other European populations did not reveal remarkable differences. No significant linkage disequilibrium could be observed between FRDA and the loci D9S5 and D9S15 in German families.

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DO - 10.1159/000154121

M3 - Journal articles

C2 - 8103037

AN - SCOPUS:0027463159

SN - 0001-5652

VL - 43

SP - 78

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JO - Human Heredity

JF - Human Heredity

IS - 2

ER -

Allele frequencies of dna markers genetically linked to friedreich ataxia in the german population

Abstract

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UN SDGs

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