caa a22 4500 467984689 CHVBK 20180323112528.0 cr unu---uuuuu 170328e19900601xx s 000 0 eng 10.1007/BF00276331 doi (NATIONALLICENCE)springer-10.1007/BF00276331 Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedreich's ataxia [Elektronische Daten] [Julie Wallis, Robert Williamson, Susan Chamberlain] Summary: We have identified a hypervariable microsatellite sequence within the chromosome 9 marker MCT112 (D9S15), which we have previously shown to be tightly linked to Friedreich's ataxia (FRDA). The system detects 7 alleles ranging in size from 195 to 209 base pairs, and substantially increases informativity at the MCT112 locus. This enhances its use for genetic counselling in affected families. Recalculated combined linkage data between the FRDA locus and MCT112 gives a maximal lod score of 66.91 at a recombination fraction of θ = 0. There is no evidence of linkage disequilibrium. Springer-Verlag, 1990 Wallis Julie Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, W2 1PG, Norfolk Place, London, UK aut Williamson Robert Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, W2 1PG, Norfolk Place, London, UK aut Chamberlain Susan Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, W2 1PG, Norfolk Place, London, UK aut Human Genetics Springer-Verlag 85/1(1990-06-01), 98-100 0340-6717 85:1<98 1990 85 439 https://doi.org/10.1007/BF00276331 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00276331 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wallis Julie Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, W2 1PG, Norfolk Place, London, UK aut NATIONALLICENCE 700 1- Williamson Robert Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, W2 1PG, Norfolk Place, London, UK aut NATIONALLICENCE 700 1- Chamberlain Susan Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, W2 1PG, Norfolk Place, London, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/1(1990-06-01), 98-100 0340-6717 85:1<98 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer