摘要
目的分析常染色体显性遗传性多指(趾)家系的HOXD13基因。方法采集一个常染色体显性遗传性多指(趾)家系的外周血,应用聚合酶链反应和直接测序技术,对该家系成员中HOXD13基因的外显子进行分析。结果2号染色体上的HOXD13基因未出现基因变异。结论HOXD13基因不是该家系的致病基因,该家系的致病基因很可能是一个新基因。
Objective To analyze the polydactyly related gene HOXD13 in Chinese kindred. Methods Peripheral blood of a Chinese family with polydactyly was sampled to analyze the exon of HOXD13 with polymerase chain reaction(PCR) and direct sequencing. Results No gene variation was found in HOXD13 coding region. Conclusion HOXD13 gene is not pathogenic gene,the polydaetyly related gene in this kindred may be located on a new locus.
出处
《中外医学研究》
2010年第11期10-11,共2页
CHINESE AND FOREIGN MEDICAL RESEARCH