PRECISE CHROMOSOMAL LOCATIONS OF THE GENES FOR DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA), VON-WILLEBRAND-FACTOR (F8VWF) AND PARATHYROID HORMONE-LIKE HORMONE (PTHLH) IN HUMAN-CHROMOSOME 12P BY DELETION MAPPING

Authors
KUWANO A MORIMOTO Y NAGAI T FUKUSHIMA Y OHASHI H HASEGAWA T KONDO I
Citation
A. Kuwano et al., PRECISE CHROMOSOMAL LOCATIONS OF THE GENES FOR DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA), VON-WILLEBRAND-FACTOR (F8VWF) AND PARATHYROID HORMONE-LIKE HORMONE (PTHLH) IN HUMAN-CHROMOSOME 12P BY DELETION MAPPING, Human genetics, 97(1), 1996, pp. 95-98
Citations number
15
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
97
Issue
1
Year of publication
1996
Pages
95 - 98
Database
ISI
SICI code
0340-6717(1996)97:1<95:PCLOTG>2.0.ZU;2-S
Abstract
The precise chromosomal localization of the gene for dentatorubral-pal lidoluysian atrophy (DRPLA) was detected by deletion mapping. Segregat ion patterns of genotypes of polymerase chain reaction products of DRP LA, von Willebrand factor (F8vWF), antigen CD4(p55) (CD4) and parathyr oid hormone-like hormone (PTHLH) loci were studied in patients with de l(12)(p13.3p13.3), del(12>(p12.3-p11.2), del(12)(p12.1-p11.2), del(12) (p11.2p11.2) and their parents. The gene for DRPLA was assigned to p1 3.1-p12.3 of chromosome 12. In addition, genes for F8vWF and PTHLH wer e mapped to p13.2 and p11.2 of chromosome 12, respectively.