ABCC6 Mutation in Patients with Angioid Streaks
ABCC6 Mutation in Patients with Angioid Streaks
复制标题
血管样条纹患者的 ABCC6 突变
DOI：
10.59566/ijbs.2006.2009
复制
发表时间：
2006
期刊：
影响因子：
--
通讯作者：
M. Yuzawa
中科院分区：
文献类型：
--
作者：
Y. Mizutani;T. Nakayama;S. Asai;H. Shimada;M. Yuzawa
血管样条纹（AS）是由布鲁赫膜弹性层破裂引起的遗传性眼部疾病。AS患者也经常受到弹性假黄瘤（PXE）的影响。该基因位于染色体16p13.1，ABCC 6基因被认为是导致该基因的致病基因。在这项研究中，我们调查了ABCC 6基因和AS的关联。对AS致病基因的研究将为今后的基因诊断奠定基础。在以前的报道中，在PXE患者中发现ABCC 6基因的外显子24和27中有许多突变。因此，我们使用单链构象多态性技术检测ABCC 6基因的外显子24和27。外显子24没有突变或多态性。G3803 A在外显子27处发生碱基替换，氨基酸由CGG变为CAG（R1268 Q）。AS患者的基因型频率为G/G 52%（23/44）、G/A 32%（14/44）和A/A 16%（14/44）。对照组中G/G基因型频率为69%（107/154），G/A基因型频率为29%（44/154），A/A基因型频率为2%（3/154）。AS组与对照组R1268 Q基因型和等位基因频率差异均有显著性（p<0.001，p<0.002;卡方检验）。因此，ABCC 6基因R1268 Q错义突变不是PXE的特异性标志，但与AS的病情有关。
Angioid streaks (AS) are hereditary eye conditions caused by breaks in the elastic layer of Bruch’s membrane. Patients with AS are also frequently affected with pseudoxanthoma elasticum (PXE). The locus of PXE has been reported to exist in chromosome 16p13.1, and the ABCC6 gene in this locus has been identified as the causal gene of PXE. In this study we investigated the association of the ABCC6 gene and AS. Elucidation of the causal gene of AS will be useful for gene diagnosis in the future. Many mutations in patients with PXE are found in exons 24 and 27 of the ABCC6 gene in previous reports. Therefore, we examined exons 24 and 27 of the ABCC6 gene using the single-strand conformation polymorphism technique. There was no mutation or polymorphism in exon 24. The base substitution of G3803A was identified in exon 27, with a change in the amino acid from CGG to CAG (R1268Q). The genotype frequencies in patients with AS were G/G 52% (23/44), G/A 32% (14/44) and A/A 16% (14/44). In control subjects, the genotype frequencies were G/G 69% (107/154), G/A 29% (44/154) and A/A 2% (3/154). Highly significant differences were observed in both genotype and allele frequencies of R1268Q between patients with AS and control subjects (p<0.001, p<0.002; chi-square test). In conclusion, the missense mutation R1268Q in the ABCC6 gene is not a specific marker of PXE, but is associated with the disease state of AS.
登录
查看更多内容
影响因子：
3.5
作者：
B. Struk;B. Struk;Kenneth H. Neldner;Valluri S. Rao;Valluri S. Rao;Pamela St. Jean;Klaus Lindpaintner
通讯作者：
B. Struk;B. Struk;Kenneth H. Neldner;Valluri S. Rao;Valluri S. Rao;Pamela St. Jean;Klaus Lindpaintner
影响因子：
4.4
作者：
Loftus, BJ;Kim, UJ;Adams, MD
通讯作者：
Adams, MD
影响因子：
9.8
作者：
Le Saux, O;Beck, K;Boyd, CD
通讯作者：
Boyd, CD
影响因子：
13.6
作者：
Uitto, J;Pulkkinen, L;Ringpfeil, F
通讯作者：
Ringpfeil, F