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目的研究中国人多种羧化酶缺陷症(multiple carboxylase deficiency,MCD)患儿及其父母基因突变情况。方法应用聚合酶链反应-直接测序的方法,对4例临床确诊MCD的中国患儿的生物素酶(BT)基因和全羧化酶合成酶(HLCS)基因的各个外显子及其两侧侧翼序列进行突变的检测,并对其父母进行相应突变基因检测。结果4例患儿皆为HLCS基因突变,没有发现BT基因突变。共发现1个缺失突变:780delG,3个错义突变:1522C>T(R508W)、1367A>G(Y456C)和1900G>A(D634N)。例1为HLCS基因的第11号外显子上的1522C>T的错义突变,为纯合突变;例2为第11号外显子的1522C>T和第9号外显子的1367A>G的复合性杂合突变;例3为第11号外显子的1522C>T和第13号外显子的1900G>A的复合性杂合突变;例4为第11号外显子的1522C>T和第7号外显子的780delG的复合性杂合突变;4例患儿的父母均是突变基因携带者。结论R508W突变可能是中国MCD中HLCS缺陷患儿较常见的突变。
Objective To study the gene mutation in Chinese children with multiple carboxylase deficiency (MCD) and their parents. Methods Polymerase chain reaction-direct sequencing was used to detect the presence of BT and HLCS genes in 4 children with MCD diagnosed in China and their two exons Flanking sequence mutation detection, and its parents were mutated gene detection. Results All 4 cases were HLCS gene mutation, and no BT gene mutation was found. One deletion mutation was found: 780delG, three missense mutations: 1522C> T (R508W), 1367A> G (Y456C) and 1900G> A (D634N). Example 1 is a missense mutation of 1522C> T on exon 11 of the HLCS gene, which is a homozygous mutation; Example 2 is a composite of 1522C> T of exon 11 and 1367A> G of exon 9 Example 3 is a compound heterozygous mutation of 1522C> T of exon 11 and 1900G> A of exon 13; Example 4 is a combination of 1522C> T and exon 7 of exon 11 Exon 780delG heterozygous heterozygous mutation; 4 cases of parents are mutant gene carriers. Conclusion The R508W mutation may be the most common mutation in children with HLCS deficiency in Chinese MCD.