两个新RUNX2基因突变引起家族性锁骨颅骨发育不全 |
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引用本文: | 高超,吴丽,耿香菊,宋丽佳,罗强. 两个新RUNX2基因突变引起家族性锁骨颅骨发育不全[J]. 中华医学遗传学杂志, 2009, 27(4): 140-143. DOI: 10.3760/cma.j.issn.1003-9406.2010.02.005 |
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作者姓名: | 高超 吴丽 耿香菊 宋丽佳 罗强 |
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作者单位: | 郑州市儿童医院康复中心,400053;郑州大学第一附属医院儿科; |
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摘 要: | Objective To identify the RUNX2 gene mutation in two unrelated Chinese families with cleidocranial dysplasia (CCD), and to assess the feasibility of gene diagnosis for patients with CCD. Methods Genomic DNA was isolated from peripheral blood samples of 4 patients and 4 healthy members in the two pedigrees as well as 102 unrelated healthy controls. All 7 coding exons and their flanking intronic sequences of the RUNX2 gene were amplified by PCR, then the PCR products were sequenced bi-directionally. The sequencing results were compared with normal sequences in GenBank to identify the mutation. The mutation was confirmed by RFLP with restriction endonuclease. Results In one family, a novel heterozygous missense mutation c. 346T>A (W116R) in exon 1 of the RUNX2 gene was detected in the two affected individuals, and the mutation was further confirmed with Bsr Ⅰ restriction endonuclease digestion. In the other family, a novel nonsense mutation c. 610A>T (K204X) was identified in the two patients. No above sequence change was found in the 102 healthy controls. Conclusion Two novel RUNX2 mutations were found in two unrelated Chinese families with cleidoeranial dysplasia. The identification of these mutations further extended the mutation spectrum of RUNX2 gene and will facilitate prenatal diagnosis and gene diagnosis of CCD.
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关 键 词: | 锁骨颅骨发育不全 RUNX2基因 基因突变 |
Two novel RUNX2 gene mutations in two Chinese families with cleidocranial dysplasia |
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Abstract: | |
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Keywords: | cleidocranial dysplasiaRUNX 2 genegene mutation |
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