Alley T L, Scherer S W, Huizenga J J, Tsui L C, Wallace M R
Department of pediatrics (Division of Genetics), University of Florida College of Medicine, Gainesville, USA.
Am J Med Genet. 1997 Jan 31;68(3):279-81.
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by multiple congenital anomalies and mental retardation. SLOS has an associated defect in cholesterol biosynthesis, but the molecular genetic basis of this condition has not yet been elucidated. Previously our group reported a patient with a de novo balanced translocation [t(7;20)(q32.1;q13.2)] fitting the clinical and biochemical profile of SLOS. Employing fluorescence in situ hybridization (FISH), a 1.8 Mb chromosome 7-specific yeast artificial chromosome (YAC) was identified which spanned the translocation breakpoint in the reported patient. The following is an update of the on-going pursuit to physically and genetically map the region further, as well as the establishment of candidate genes in the 7q32.1 breakpoint region.
史密斯-勒米-奥皮茨综合征（SLOS）是一种常染色体隐性疾病，其特征为多种先天性异常和智力发育迟缓。SLOS与胆固醇生物合成缺陷有关，但这种病症的分子遗传基础尚未阐明。此前我们团队报告了一名患有新发平衡易位[t(7;20)(q32.1;q13.2)]的患者，其符合SLOS的临床和生化特征。利用荧光原位杂交（FISH）技术，鉴定出一个1.8 Mb的7号染色体特异性酵母人工染色体（YAC），它跨越了所报告患者的易位断点。以下是对进一步对该区域进行物理和遗传图谱绘制以及在7q32.1断点区域建立候选基因的持续研究进展的更新。
