DYSTONIA-PARKINSONISM SYNDROME (XDP) LOCUS - FLANKING MARKERS IN XQ12-Q21.1

作者：KUPKE KG; GRAEBER MB; MULLER U

来源：American Journal of Human Genetics, 1992, 50(4): 808-815.

The study of rare genetic forms of dystonia and parkinsonism permits positional cloning of genes potentially involved in more common, multifactorial forms of these disease. One movement disorder amenable to molecular genetic analysis is the X-linked dystonia-parkinsonism syndrome (XDP). This disease is endemic to the Philippines where it originated by a genetic founder effect. Linkage analysis was performed with DNA from 14 XDP kindreds by using 12 polymorphic DNA sequences in Xp11-Xq22. Two-point analysis demonstrated maximum lod scores of 5.45, 4.95, 4.28, and 5.99 for DXS106, DXS159, PGK1, and DXS72, respectively, at recombination fractions of zero (DXS106 and DXS159), .01 (PGK1), and .04 (DXS72). Multipoint analysis resulted in a maximum-likelihood score (Z(max)) of 8.41 with a (Z(max) - 1) support interval of 9 cM between DXS159 and DXS72 (Xq12-q21.1). In 19 XDP kindreds significant linkage disequilibrium was found for loci DXS72 (DELTA = .47), PGK1 (DELTA = .36), DXS95 (DELTA = .30), DXS106 (DELTA = .28), and DXS159 (DELTA = .26). These data indicate that the gene mutated in XDP (locus DYT3) is located in Xq12-q21.1.

• 出版日期1992-4