Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome. Japanese Alport Network.
Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome. Japanese Alport Network.
复制标题
男性X连锁Alport综合征COL4A5基因突变与IV型胶原分布的关系
作者：
Ichiro Naito;S. Kawai;Shinsuke Nomura;Yoshikazu Sado;Gengo Osawa
用识别9例X连锁Alport综合征（其COL4A5突变已被确定）男性患者α 1（IV）至α 6（IV）链的单克隆抗体系列研究了IV型胶原蛋白链的肾脏免疫组织化学分布。2例患者有缺失突变，6例患者有错义突变，1例患者有剪接位点突变。α 3（IV）至α 6（IV）链在两名缺失突变患者的肾基底膜中完全缺失。相反，在6例错义突变（胶原结构域内的甘氨酸取代）的患者中，有4例在肾小球基底膜中识别α 3（IV）至α 5（IV）链的抗原性，尽管它很弱。此外，其余患者中有1例显示所有IV型胶原蛋白链的正常组织化学模式，而其余1例显示完全不存在α 3（IV）至α 5（IV）链的相同模式的缺失突变。1例剪接位点突变的患者显示肾小球基底膜完全不存在α 3（IV）至α 5（IV）链，但Bowman囊基底膜的α 5（IV）和α 6（IV）链染色较弱。我们的观察结果表明，在具有COL4A5突变的男性患者中，α 3（IV）至α 6（IV）抗体的染色是多样的。
The renal immunohistochemical distribution of collagen IV chains was studied with a monoclonal antibody series recognizing the alpha 1(IV) to alpha 6(IV) chains in nine males with X-linked Alport syndrome whose COL4A5 mutation had been already identified. Two patients had a deletional mutation, six patients had a missense mutation and one patient had a splicing site mutation. The alpha 3(IV) to alpha 6(IV) chains were completely absent in the renal basement membrane of the two patients with a deletional mutation. On the contrary, in four of six patients with a missense mutation (substitution of a glycine within collagenous domain), antigenecity of the alpha 3(IV) to alpha 5(IV) chains was recognized in the glomerular basement membrane although it was weak. In addition, one of the remaining patients showed a normal histochemical pattern of all type IV collagen chains, while the rest one showed completely absent of the alpha 3(IV) to alpha 5(IV) chains at the same pattern of deletional mutation. One patient with a splice site mutation showed complete absence of the alpha 3(IV) to alpha 5(IV) chains from the glomerular basement membrane, but weak staining of the alpha 5(IV) and alpha 6(IV) chains from the Bowman's capsular basement membrane. Our observations indicated that there is variety in the staining of the alpha 3(IV) to alpha 6(IV) antibodies among male patients with COL4A5, mutations.
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Alport 型家族性肾炎家族表皮和肾基底膜中的肾炎抗原决定簇。
DOI：
10.1172/jci112658
发表时间：
1986
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
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通讯作者：
Michael,AF
影响因子：
56.9
作者：
BARKER, DF;HOSTIKKA, SL;TRYGGVASON, K
通讯作者：
TRYGGVASON, K
DOI：
10.1016/s0021-9258(19)74270-7
发表时间：
1993-12
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
B. Hudson;S. Reeders;K. Tryggvason
通讯作者：
B. Hudson;S. Reeders;K. Tryggvason
DOI：
10.1016/s0021-9258(18)37416-7
发表时间：
1988-12
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
B. Vogel;R. Doelz;K. Kadler;Y. Hojima;J. Engel;D. Prockop
通讯作者：
B. Vogel;R. Doelz;K. Kadler;Y. Hojima;J. Engel;D. Prockop
通过 cDNA 分离并将该基因分配到染色体 Xq22（与 COL4A5 相同的基因座）来鉴定新的胶原蛋白 IV 链 α 6(IV)。
DOI：
--
发表时间：
1994
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Oohashi,T;Sugimoto,M;Mattei,MG;Ninomiya,Y
通讯作者：
Ninomiya,Y