遗传性非息肉病性结直肠癌（HNPCC）家系患者微卫星不稳定性的遗传学分析

[Genetics analysis of microsatellite instability in patients from hereditary nonpolyposis colorectal cancer (HNPCC) families].

作者信息

Smolarz Beata, Langner Ewa, Romanowicz-Makowska Hanna, Kozłowska Elzbieta, Kulig Andrzej, Dziki Adam

机构信息

Instytut Centrum Zdrowia Matki Polki w Lodzi, Pracownia Biologii Molekulamej, Zakład Patomorfologii Klinicznej.

出版信息

Pol Merkur Lekarski. 2006 Jul;21(121):20-3.

PMID:17007286

Abstract

UNLABELLED

Microsatellite instability (MSI) is due to defective DNA mismatch repair and is characteristic of HNPCC tumours.

THE AIM

The role of MSI in familial predisposition to colorectal cancer was investigated in this study by microsatellite analysis among familial cases.

MATERIAL AND METHODS

PCR-based microsatellite analysis was performed in blood obtained from 30 members from HNPCC families. Blood samples age matched healthy individuals (n = 28) served as control. MSI was studied at five loci containing single- or dinucleotide repeat sequences and mapping to different chromosomal locations: BAT-25 (at locus 4q12), BAT-26 (2p16), D2S123 (2p16-p21), D5S346 (5q21-q22) and D17S250 (17q11.2-q12).

RESULTS

MSI frequency was higher in member of HNPCC families (40%) than in control (10.7%) cases. Out of the 30 samples tested, 12 were found to be MSI positive, 9 MSI high and 3 MSI low.

CONCLUSION

The present study suggest that microsatellite instability seem to be a risk factor of colorectal cancer in subjects belonged to HNPCC families with high incidence of this cancer.

摘要

未标记

微卫星不稳定性（MSI）是由于DNA错配修复缺陷所致，是遗传性非息肉病性结直肠癌（HNPCC）肿瘤的特征。

目的

本研究通过对家族性病例进行微卫星分析，探讨MSI在家族性结直肠癌易感性中的作用。

材料与方法

对30名HNPCC家族成员的血液进行基于聚合酶链反应（PCR）的微卫星分析。年龄匹配的健康个体（n = 28）的血液样本作为对照。在五个包含单核苷酸或二核苷酸重复序列且定位于不同染色体位置的位点研究MSI：BAT-25（位于4q12位点）、BAT-26（2p16）、D2S123（2p16-p21）、D5S346（5q21-q22）和D17S250（17q11.2-q12）。