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首页> 外文期刊>International Journal of Genomics >Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy
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Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy

机译：鉴定中国心肌白科患者的新型ARSA突变

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摘要

Objective. Metachromatic leukodystrophy (MLD) is an inherited disease caused by a deficiency of the enzyme arylsulfatase A (ARSA) that leads to severe physiologic and developmental problems. Our study is aimed at elucidating the clinical and genetic characteristics of Chinese MLD patients. Methods. Clinical data of 21 MLD patients was collected. All coding exons of ARSA and their flanking intronic sequences were amplified by polymerase chain reaction and subjected to direct sequencing. Results. All 21 patients were diagnosed with MLD clinically and genetically, out of which 17 patients were late infantile and 4 were juvenile types. A total of 34 ARSA mutations, including 28 novel mutations (22 missense, 1 splicing, 1 nonsense, 3 small insertions, and 1 small deletion mutation) and 6 known mutations (5 missense and 1 small insertion mutation), were identified. Prenatal diagnosis was performed for four pedigrees. One fetus was a patient, two fetuses were carriers, and two were wild type. Conclusions. The present study discovered 28 novel ARSA mutations and widely expanded the mutation spectrum of ARSA. Four successful prenatal diagnoses provided critical information for MLD families.
机译：客观的。成群质性白细胞（MLD）是由酶芳基硫酸酶A（ARSA）的缺乏引起的遗传疾病，导致严重的生理和发育问题。我们的研究旨在阐明中国MLD患者的临床和遗传特征。方法。收集21例MLD患者的临床资料。通过聚合酶链反应扩增ARSA的所有编码外显子和它们的侧翼内肠序列，并进行直接测序。结果。所有21例患者临床上诊断患有MLD，并遗传上，其中17名患者是晚期婴儿，4例患者是幼年型。鉴定了总共34个ARSA突变，包括28种新突变（22个小次突变，1个剪接，1个废话，3个小插入和1个小缺失突变）和6个已知突变（5个畸形和1个小插入突变）。对四个章节进行产前诊断。一个胎儿是患者，两只胎儿是载体，两种是野生型。结论。本研究发现了28个新的ARSA突变并广泛扩大了ARSA的突变谱。四个成功的产前诊断为MLD家庭提供了关键信息。

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  • 来源
    《International Journal of Genomics》 |2018年第2期|共9页
  • 作者

    Li Chen; Huifang Yan; Binbin Cao;

  • 作者单位

    Department of Pediatrics Peking University First Hospital Beijing 100034 China;

    Department of Pediatrics Peking University First Hospital Beijing 100034 China;

    Department of Pediatrics Peking University First Hospital Beijing 100034 China;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 分子生物学;
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