학술논문
Genetic Linkage Studies of Machado-Joseph Disease with Chromosome 14q STRPs in 16 Portuguese-Azorean Kindreds
Document Type
Article
Author
Sequeiros, Jorge; Silveira, Isabel; Maciel, Patrı́cia; Coutinho, Paula; Manaia, Alexandra; Gaspar, Claudia; Burlet, Philippe; Loureiro, Leal; Guimarães, João; Tanaka, Hajime; Takiyama, Yoshihisa; Sakamoto, Hirosuke; Nishizawa, Masatoyo; Nomura, Yoshiko; Segawa, Masaya; Tsuji, Shoji; Melki, Judith; Munnich, Arnold
Source
Genomics; June 1994, Vol. 21 Issue: 3 p645-648, 4p
Subject
Language
ISSN
08887543; 10898646
Abstract
Machado-Joseph disease (MJD) is a dominant multisystem degeneration found mostly among Azoreans and characterized by the adulthood onset of cerebellar, ocular, pyramidal, extrapyramidal, and/or peripheral signs. MJD has been recorded in many other populations, particularly in the United States and Japan. Using the microsatellite DNA polymorphisms (STRPs) D14S53, D14S55, D14S48, and D14S45, we found significantly positive lod scores in 16 Portuguese kindreds, suggesting that the MJD locus is linked to chromosome 14q in this population. Differences in age-at-onset and many untyped individuals seem to explain the lower lod scores. Using HOMOG, no evidence was found for heterogeneity with the five Japanese families in whom linkage was reported.