一个患有家族性腺瘤性息肉病且携带腺瘤性息肉病大肠杆菌基因错义突变的家族的临床发现。
Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene.
作者信息
Marchese C A, Bertolino F, Ceccopieri B, Vanzetti M, Scaglione D, Locatelli L, Montera M, Romio L, Resta N, Stella A, Guanti G, Mareni C
机构信息
Analysis Laboratory, Mauriziano Hospital Umberto I, Turin, Italy.
出版信息
Scand J Gastroenterol. 1996 Sep;31(9):917-20. doi: 10.3109/00365529609052002.
BACKGROUND
More than 100 different mutations in the adenomatous polyposis coli (APC) gene have been identified; virtually all lead to the production of a truncated protein. Clinical details of patients with missense mutations undoubtedly cosegregating with the disease have not been reported and may be relevant in understanding the APC protein function.
METHODS
In one family with familial adenomatous polyposis (FAP) the APC gene was analyzed by SSCP and sequencing of the aberrant SSCP band.
RESULTS
A missense mutation in exon 15 at nucleotide 4921 segregating with the disease was observed. This predicts a tryptophan instead of an arginine at amino acid 1641 of the APC protein. No such mutation was present in 100 control subjects.
CONCLUSIONS
In this family the colonic manifestations are as expected for classical FAP. However, the occurrence of congenital hypertrophy of the retinal pigment epithelium is unusual, owing to the inconsistency of this manifestation between family members and because congenital hypertrophy of the retinal pigment epithelium is generally absent when mutations are after codon 1387.
背景
已鉴定出腺瘤性息肉病 coli（APC）基因中有 100 多种不同的突变；几乎所有这些突变都会导致截短蛋白的产生。尚未报道错义突变患者与疾病无疑共分离的临床细节，这些细节可能与理解 APC 蛋白功能相关。
方法
在一个患有家族性腺瘤性息肉病（FAP）的家族中，通过单链构象多态性（SSCP）和异常 SSCP 条带的测序对 APC 基因进行分析。
结果
观察到第 15 外显子中第 4921 位核苷酸的错义突变与疾病共分离。这预测 APC 蛋白第 1641 位氨基酸处为色氨酸而非精氨酸。100 名对照受试者中未出现此类突变。
结论
在这个家族中，结肠表现与经典 FAP 预期的一样。然而，视网膜色素上皮先天性肥大的出现并不寻常，这是由于家族成员之间这种表现不一致，并且当突变发生在密码子 1387 之后时，通常不存在视网膜色素上皮先天性肥大。
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