组织蛋白酶C第7外显子中的杂合异亮氨酸453缬氨酸密码子突变、第2和5内含子中的纯合单核苷酸多态性与海姆-蒙克综合征相关。
Heterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome.
作者信息
Aswath Nalini, Swamikannu Bhuminathan, Ramakrishnan Sankar Narayanan, Shanmugam Rajendran, Thomas Jayakar, Ramanathan Arvind
机构信息
Department of Oral Medicine and Radiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India.
Department of Prosthodontics, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India.
出版信息
Eur J Dent. 2014 Jan;8(1):79-84. doi: 10.4103/1305-7456.126250.
OBJECTIVE
In the present study, we have investigated the genetic status of CTSC gene in a HMS subject, who along with her parents belonged to non-Jewish South Indian Dravidian community.
MATERIALS AND METHODS
Genomic deoxyribonucleic acid isolated from the peripheral blood of the subject was amplified with CTSC exon specific primers and were analyzed by direct sequencing.
RESULTS
Sequencing analysis identified Ile453Val mutation within exon 7 of CTSC gene in heterozygous condition, and two single nucleotide polymorphisms (SNPs) within intron 2 and 5 in homozygous condition.
CONCLUSION
The present study has identified for the first time the association of Ile453Val mutation within exon 7 and the two SNPs in a subject with HMS.
目的
在本研究中，我们调查了一名遗传性掌跖角化病（HMS）患者的CTSC基因的遗传状况，该患者及其父母属于非犹太裔南印度达罗毗荼社区。
材料与方法
从该患者外周血中分离的基因组脱氧核糖核酸用CTSC外显子特异性引物进行扩增，并通过直接测序进行分析。
结果
测序分析确定CTSC基因第7外显子存在杂合状态的Ile453Val突变，以及第2和第5内含子存在纯合状态的两个单核苷酸多态性（SNP）。
结论
本研究首次在一名HMS患者中确定了第7外显子的Ile453Val突变与两个SNP之间的关联。
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