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学科主题神经病学
GLA基因的新突变出现在两个典型Fabry家系
其他题名Novel GLA gene mutations in two Chinese families with classic Fabry disease
王朝霞1; 张英1; 卜定方1; 张巍1; 袁云1
关键词Fabry病 Gla基因 突变 Fabry Disease Gla Gene Mutation
刊名中华医学遗传学杂志
2005
DOI10.3760/j.issn:1003-9406.2005.05.003
22期:5页:489-492
收录类别中国科技核心期刊 ; 中文核心期刊 ; CSCD
文章类型Journal Article
摘要目的报告2个Fabry家系的GLA基因突变特点.方法 2个经临床和病理检查证实的Fabry家系,家系1中连续3代有12人发病,均表现为发作性肢体疼痛;家系2中连续5代有8人发病,多数患者在经末期出现显著的多器官损害表现.对2个家系中的先证者和部分亲属进行PCR扩增其GLA基因的所有7个外显子包括侧翼序列,对PCR产物直接测序.结果先证者1的GLA基因第1外显子G132T(TGG→TGT)突变,造成W44C替换;先证者2的第6外显子G874C(GCT→CCT),造成A292P替换.两个先证者的母亲都有同其儿子一样的突变,且均为杂合性.结论经文献检索,两个Fabry家系各存在一个新的GLA基因点突变.同一基因的不同位点的突变导致的临床表现存在很大的差异. 由于女性患者和男性一样出现症状,推测这可能是等位基因随机失活导致的显性遗传表现. Objective To search mutations in GLA gene in two Chinese families with classic Fabry disease. Methods Two families with Fabry disease confirmed by pathological and clinical studies were reported here. In pedigree 1, 12 family members had paroxysmal pain on limb extremities. In pedigree 2, there were 8 patients and most of them had multi-organ involvement at the end stage of the disease. Two probands from the two families together with several of their family members were searched for mutations in GLA gene. After extraction of genomic DNA from peripheral leukocytes, all of the 7 exons and their flanking introns were amplified by PCR and directly sequenced. Results Both the proband 1 and proband 2 were identified to be hemizygotes of novel GLA missense mutations. G132T (TGG→TGT) mutation in exon 1, resulting in the substitution of amino acid from tryptophan to cysteine (W44C), was detected in proband 1. G874C (GCT→CCT) mutation in exon 6, resulting in the substitution of amino acid from alanine to praline (A292P), was detected in proband 2. Mothers of the 2 probands were heterozygotes carrying the same mutation as their sons. Conclusion We report here 2 novel missense mutations in two Chinese families with classic Fabry disease. Different mutations in the same gene can result in phenotypes with significant deviation. Several female patients with the same clinical manifestations as male patients in the 2 families suggest that the X-linked dominant inheritance of the disease, possibly related to be the random X chromosome inactivation.
语种中文
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文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/41271
Collection北京大学第一临床医学院_神经内科
作者单位1.100034,北京大学第一医院神经内科
2.100034,北京大学第一医院中心实验室
Recommended Citation
GB/T 7714
王朝霞,张英,卜定方,等. GLA基因的新突变出现在两个典型Fabry家系[J]. 中华医学遗传学杂志,2005,22(5):489-492.
APA 王朝霞,张英,卜定方,张巍,&袁云.(2005).GLA基因的新突变出现在两个典型Fabry家系.中华医学遗传学杂志,22(5),489-492.
MLA 王朝霞,et al."GLA基因的新突变出现在两个典型Fabry家系".中华医学遗传学杂志 22.5(2005):489-492.
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