Toda T, Ikegawa S, Okui K, Kondo E, Saito K, Fukuyama Y, Yoshioka M, Kumagai T, Suzumori K, Kanazawa I
Department of Biochemistry, University of Tokyo, Japan.
Am J Hum Genet. 1994 Nov;55(5):946-50.
Fukuyama-type congenital muscular dystrophy (FCMD), the second most common form of childhood muscular dystrophy in Japan, is an autosomal recessive severe muscular dystrophy associated with an anomaly of the brain. After our initial mapping of the FCMD locus to chromosome 9q31-33, we further defined the locus within a region of approximately 5 cM between loci D9S127 and CA246, by homozygosity mapping in patients born to consanguineous marriages and by recombination analyses in other families. We also found evidence for strong linkage disequilibrium between FCMD and a polymorphic microsatellite marker, mfd220, which showed no recombination and a lod score of (Z) 17.49. A "111-bp" allele for the mfd220 locus was observed in 22 (34%) of 64 FCMD chromosomes, but it was present in only 1 of 120 normal chromosomes. This allelic association with FCMD was highly significant (chi 2 = 50.7; P < .0001). Hence, we suspect that the FCMD gene could lie within a few hundred kilobases of the mfd220 locus.
福山型先天性肌营养不良（FCMD）是日本儿童期第二常见的肌营养不良类型，是一种常染色体隐性遗传的严重肌营养不良，与脑部异常有关。在我们最初将FCMD基因座定位于9号染色体q31 - 33之后，我们通过对近亲结婚所生孩子进行纯合性定位以及对其他家系进行重组分析，进一步将该基因座确定在基因座D9S127和CA246之间约5厘摩的区域内。我们还发现FCMD与一个多态性微卫星标记mfd220之间存在强连锁不平衡的证据，该标记未出现重组，对数优势比（Z）为17.49。在64条FCMD染色体中的22条（34%）上观察到mfd220基因座的“111 - bp”等位基因，但在120条正常染色体中仅1条上出现该等位基因。这种与FCMD的等位基因关联具有高度显著性（卡方 = 50.7；P <.0001）。因此，我们推测FCMD基因可能位于mfd220基因座的几百千碱基范围内。
