一个掌跖角化-牙周破坏综合征患者家系组织蛋白酶C基因突变分析

doi:10.7518/hxkq.2019.01.006

华西口腔医学杂志 ›› 2019, Vol. 37 ›› Issue (1): 31-36.doi: 10.7518/hxkq.2019.01.006

一个掌跖角化-牙周破坏综合征患者家系组织蛋白酶C基因突变分析

胡婷婷,邹小炎,叶芳()

南昌大学附属口腔医院牙周科江西省口腔生物医学重点实验室,南昌 330006

收稿日期:2018-01-13 修回日期:2018-05-19 出版日期:2019-02-01 发布日期:2019-02-01
通讯作者: 叶芳 E-mail:fangye999@qq.com
作者简介:胡婷婷,硕士,E-mail： 351089952@qq.com
基金资助:
江西省自然科学基金(2515BAB205095)

Gene mutational analyses of cathepsin C gene in a family with Papillon-Lefèvre syndrome

Tingting Hu,Xiaoyan Zou,Fang Ye()

Dept. of Periodontics, Affiliated Stomatological Hospital of Nanchang University, The Key Laboratory of Oral Biomedicine, Jiangxi Province, Nanchang 330006

Received:2018-01-13 Revised:2018-05-19 Online:2019-02-01 Published:2019-02-01
Contact: Fang Ye E-mail:fangye999@qq.com
Supported by:
Natural Science Foundation of Jiangxi Province(2515BAB205095)

摘要/Abstract

摘要：

目的对一个掌跖角化-牙周破坏综合征（PLS）患者及其家系组织蛋白酶C基因（CTSC）突变位点进行分析,探讨PLS的分子致病机制。方法提取1例PLS先证者及其直系血亲（父母、弟弟）的基因组DNA,应用聚合酶链反应和DNA直接测序技术分析先证者及其直系血亲CTSC基因的突变情况。结果 PLS先证者CTSC基因存在复合型杂合突变。先证者位于外显子6的第800位碱基发生了一个杂合错义突变,该碱基对中的碱基T被C取代（c.800T>C）,其编码的氨基酸由亮氨酸改变为脯氨酸（p.L267P）;位于外显子7的第1015位碱基发生了一个杂合错义突变,该碱基对中的碱基C被T取代（c.1015C>T）,其编码的氨基酸由精氨酸改变为半胱氨酸（p.R339C）。其中,c.800T>C来自母亲,c.1015C>T来自父亲,弟弟的CTSC基因未见突变。结论 PLS的临床表征与CTSC基因突变有关。

关键词: 掌跖角化-牙周破坏综合征, 组织蛋白酶C, 基因突变

Abstract:

Objective This study aimed to investigate the gene mutational characteristics of cathepsin C (CTSC) gene in a Chinese patient with Papillon-Lefèvre syndrome (PLS) and further confirm the genetic basis for the phenotype of PLS. Methods Peripheral blood samples were obtained from the PLS proband and his family members (his parents and younger brother) for genomic DNA extraction. The coding region and exon boundaries of the CTSC gene were amplified and sequenced by polymerase chain reaction and direct sequencing of DNA. Results Compound heterozygous mutations of CTSC gene were identified in the patient. A heterozygous missense mutation occurred in the 800th base of exon 6, and the base T in the base pair was replaced by C (c.800T>C). The encoded amino acid leucine changed to proline (p. L267P). A heterozygous missense mutation occurred in the 1015th base of exon 7, and base C in the base pair was replaced by T (c.1015C>T). The encoded amino acid arginine changed to cysteine (p.R339C). Among the mutations, c.800T>C originated from the mother, c.1015C>T was identified from the father. No mutations were detected in the younger brother. Conclusion Mutations of CTSC gene are responsible for the phenotype of PLS.

Key words: Papillon-Lefèvre syndrome;, cathepsin C, gene mutation

中图分类号:

R781.4

胡婷婷,邹小炎,叶芳. 一个掌跖角化-牙周破坏综合征患者家系组织蛋白酶C基因突变分析[J]. 华西口腔医学杂志, 2019, 37(1): 31-36.

Tingting Hu,Xiaoyan Zou,Fang Ye. Gene mutational analyses of cathepsin C gene in a family with Papillon-Lefèvre syndrome[J]. West China Journal of Stomatology, 2019, 37(1): 31-36.

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引物名称	引物序列	产物长度/bp
外显子1	F：5’-TCCAGTTGCAGCCAAGTGAG-3’	536
	R：5’-GGTCCCCGAATCCAGTCAA-3’
外显子2	F：5’-CTCAAACTGGGTAGCATGAAAGG-3’	381
	R：5’-GGTGTCAATTCCGGTCATCTTC-3’
外显子3	F：5’-ACCTCTCAGGGTGAAGTTTTTGTT-3’	424
	R：5’-TTTTACATAGCATGCCTAATATTTCT-3’
外显子4	F：5’-ACCACTTTCCACTTAGGCACAGA-3’	343
	R：5’-GGCGAGCAACACTGGTAGGA-3’
外显子5	F：5’-CAGGTGCTCTGGGTCTGAATCTA-3’	352
	R：5’-ATCATGCCCATTCCATCTAGGTAT-3’
外显子6	F：5’-TGTTAGTTGAGTCTTCTTATTGTGCT-3’	415
	R：5’-GCCAGACTTGCACTCAGATTTT-3’
外显子7	1F：5’-TAGAAGGAGGATGAAAGGATAGTTA-3’	699
	1R：5’-CTGGAAGGCATACCCTACAATT-3’
	2F：5’-CTGGGGTGAGAATGGCTACTT-3’	659
	2R：5’-CTCCCTGTCATAAAGGTTCATAGTT-3’

一个掌跖角化-牙周破坏综合征患者家系组织蛋白酶C基因突变分析

Gene mutational analyses of cathepsin C gene in a family with Papillon-Lefèvre syndrome

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