Next Generation Mendelian Genetics: Kabuki Syndrome. Homo sapiens

The ultimate purpose of this research is to identify genes causing hereditary disorders. We are scaling a new approach to identify the candidate genes and gene mutations that underlie rare human Mendelian (a set of primary tenets relating to the transmission of hereditary characteristics from parent to child) diseases by using exome (protein coding segments of DNA) resequencing. The exome sequences of ten unrelated individuals with a diagnosis of Kabuki Syndrome (OMIM: 147920) were obtained by massively parallel DNA sequencing.

本研究的最终目标为鉴定引发遗传性疾病的致病基因。本研究拟通过外显子组（exome，即DNA的蛋白质编码区段）重测序技术，优化并推广一种新型研究方法，以鉴定罕见人类孟德尔（Mendelian，即遵循父母向子代传递遗传特征的核心遗传法则的一类疾病）遗传病的候选基因与致病基因突变。本研究采用大规模并行DNA测序（massively parallel DNA sequencing）技术，获取了10名经确诊为歌舞伎综合征（Kabuki Syndrome，OMIM: 147920）的无亲缘关系个体的外显子组序列。