STICKLER-SYNDROME - A MUTATION IN THE NONHELICAL 3'-END OF TYPE-II PROCOLLAGEN GENE
STICKLER-SYNDROME - A MUTATION IN THE NONHELICAL 3'-END OF TYPE-II PROCOLLAGEN GENE
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DOI：
10.1001/archopht.1995.01100110114034
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发表时间：
1995-11-01
影响因子：
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通讯作者：
TASMAN, WS
中科院分区：
文献类型：
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作者：
AHMAD, NN;DIMASCIO, J;TASMAN, WS
背景：在Stickler综合征家族中发现的所有II型前胶原蛋白（COL2A1）基因突变主要位于该基因的三螺旋区。我们报告了我们认为是由COL2A1基因编码的球状c前肽区域的第一个过早停止密码子，在一个患有Stickler综合征的家庭中。设计：使用聚合酶链反应扩增来自该三代家族中受影响和未受影响家庭成员的基因组DNA。聚合酶链反应产物直接测序用于DNA分析。结果：直接测序显示COL2A1基因50外显子单碱基缺失，导致所有受影响成员COL2A1基因球形c前肽51外显子过早终止密码子。结论：这些结果暗示过早终止密码子是Stickler综合征的常见原因。这个过早终止密码子位于基因非螺旋3'端的远端，表明至少84个氨基酸残基的截断c -前肽不足以形成功能性基因产物。
Background: All of the mutations in the type II procollagen (COL2A1) gene that have been identified in families affected with Stickler syndrome have been located primarily in the triple helical region of the gene. We report what we believe is the first premature stop codon in the globular C-propeptide region encoded by the COL2A1 gene, in a family affected with Stickler syndrome.Design: Genomic DNA from affected and unaffected family members of this three-generation family was amplified using the polymerase chain reaction. The polymerase chain reaction products were directly sequenced for DNA analysis.Results: Direct sequencing showed a single base deletion in exon 50, resulting in a premature stop codon in exon 51 in the globular C-propeptide of COL2A1 gene in all affected members.Conclusions: These results implicate premature stop codons as a common cause of Stickler syndrome. The location of this premature stop codon in the far end of the nonhelical 3' end of the gene indicates that a truncated C-propeptide of at least 84 amino acid residues is inadequate for the functional gene product.