SINGLE-STRAND CONFORMATION POLYMORPHISM (SSCP) ANALYSIS OF THE COL3A1 GENE DETECTS A MUTATION THAT RESULTS IN THE SUBSTITUTION OF GLYCINE-1009 TO VALINE AND CAUSES SEVERE EHLERS-DANLOS SYNDROME TYPE-IV
SINGLE-STRAND CONFORMATION POLYMORPHISM (SSCP) ANALYSIS OF THE COL3A1 GENE DETECTS A MUTATION THAT RESULTS IN THE SUBSTITUTION OF GLYCINE-1009 TO VALINE AND CAUSES SEVERE EHLERS-DANLOS SYNDROME TYPE-IV
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DOI：
10.1002/humu.1380030315
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发表时间：
1994-01-01
期刊：
影响因子：
3.9
通讯作者：
LEROY, J
中科院分区：
文献类型：
--
作者：
NUYTINCK, L;DEPAEPE, A;LEROY, J
用单链构象多态(SSCP)方法检测了一例IV型Ehler-Danlos综合征患者的III型胶原基因的单碱基错配。患者的成纤维细胞分泌正常和缓慢迁移的III型前胶原分子，二维CNBR多肽图谱显示该缺陷位于OL链的CB9肽或C前肽区域，(Iii)。对扩增的CB9编码序列的一组限制性内切酶酶切片段进行分析，确定了单链构象多态，并将其定位在与α(1)(III)链CB9多肽的羧基末端相对应的79bp区域内。DNA序列分析表明，该患者为α(1)(Iii)cDNA3440碱基对G到T的杂合点突变，导致α(1)(Iii)链第1009位氨基酸的甘氨酸被Valine取代。这位患者的突变位于III型胶原的羧基末端的突变区域内，这是一种螺旋，所有这些都会产生一种严重的‘’肢端‘’形式的EDS IV。(C)1994年Wiley-Liss公司。
A single base mismatch was detected by single strand conformation polymorphism (SSCP) of the collagen type III gene in a patient with Ehlers-Danlos syndrome type IV. The patient's fibroblasts secreted both normal and slowly migrating type III procollagen molecules, Two-dimensional CNBr peptide mapping suggested that the defect was localised in the CB9 peptide or the C propeptide region of the ol,(III) chain. Analysis of a set of restriction endonuclease digested fragments of an amplified cDNA sequence encoding CB9, identified a single strand conformation polymorphism and localized it within a region of 79 bp corresponding to the carboxyl terminal end of the CB9 peptide of the alpha(1)(III)-chain. DNA sequence analysis demonstrated that the patient was heterozygous for a point mutation converting G to T at base pair 3440 of the collagen alpha(1)(III) cDNA resulting in the substitution of glycine with valine at amino acid position 1009 of the alpha(1)(III) chain. The mutation in this patient lies within a region of mutations at the carboxyl terminal end of the type III collagen a helix which all produce a severe ''acrogeric'' form of EDS IV. (C) 1994 Wiley-Liss, Inc.