BACKGROUND AND PURPOSE: Moyamoya disease is a cerebrovascular disease of unknown cause that mainly affects Japanese children. The incidence of familial occurrence accounts for 9% of cases. The characteristic lesions of moyamoya disease are occasionally seen in neurofibromatosis type 1, of which the causative gene (NF1) has been assigned to chromosome 17q11.2. METHODS: To determine whether a gene related to moyamoya disease is located on chromosome 17, we conducted microsatellite linkage analyses on 24 families containing 56 patients with moyamoya disease. Leukocyte DNA extracted from the family members was subjected to polymerase chain reaction for a total of 22 microsatellite markers on chromosome 17. The amplified polymerase chain reaction fragments were analyzed with GeneScan on an automated sequencer. RESULTS: Two-point linkage analysis gave a maximum log(10) odds (LOD) score of 3.11 at the recombination fraction of 0.00 for the marker at locus D17S939. The affected pedigree member method also showed a significantly low P value (<1. 0x10(-5)) for the 5 adjacent markers at 17q25. Multipoint linkage analysis also indicated that the disease gene is contained within the 9-cM region of D17S785 to D17S836, with a maximum LOD score of 4. 58. CONCLUSIONS: A gene for familial moyamoya disease is located on chromosome 17q25.
BACKGROUND AND PURPOSE:Moyamoya disease is a cerebrovascular disease of unknown cause that mainly affects Japanese children. The incidence of familial occurrence accounts for 9% of cases. The characteristic lesions of moyamoya disease are occasionally seen in neurofibromatosis type 1, of which the causative gene (NF1) has been assigned to chromosome 17q11.2. METHODS: To determine whether a gene related to moyamoya disease is located on chromosome 17, we conducted microsatellite linkage analyses on 24 families containing 56 patients with moyamoya disease. Leukocyte DNA extracted from the family members was subjected to polymerase chain reaction for a total of 22 microsatellite markers on chromosome 17. The amplified polymerase chain reaction fragments were analyzed with GeneScan on an automated sequencer. RESULTS: Two-point linkage analysis gave a maximum log(10) odds (LOD) score of 3.11 at the recombination fraction of 0.00 for the marker at locus D17S939. The affected pedigree member method also showed a significantly low P value (<1. 0x10(-5)) for the 5 adjacent markers at 17q25. Multipoint linkage analysis also indicated that the disease gene is contained within the 9-cM region of D17S785 to D17S836, with a maximum LOD score of 4. 58. CONCLUSIONS: A gene for familial moyamoya disease is located on chromosome 17q25.
Authors: Akio Koizumi; Hatasu Kobayashi; Wanyang Liu; Yukiko Fujii; S T M L D Senevirathna; Shanika Nanayakkara; Hiroko Okuda; Toshiaki Hitomi; Kouji H Harada; Katsunobu Takenaka; Takao Watanabe; Shinichiro Shimbo Journal: Environ Health Prev Med Date: 2012-08-10 Impact factor: 3.674
Authors: Ho Jun Seol; Kyu-Chang Wang; Seung-Ki Kim; Yong-Seung Hwang; Ki Joong Kim; Byung-Kyu Cho Journal: Childs Nerv Syst Date: 2006-03-25 Impact factor: 1.475
Authors: Duane L Guernsey; Haiyan Jiang; Susan C Evans; Meghan Ferguson; Makoto Matsuoka; Mathew Nightingale; Andrea L Rideout; Sylvie Provost; Karen Bedard; Andrew Orr; Marie-Pierre Dubé; Mark Ludman; Mark E Samuels Journal: Am J Hum Genet Date: 2009-07-02 Impact factor: 11.025