伊朗患者恶性胶质瘤中p16/CDKN2A基因频繁纯合缺失。

Frequent homozygous deletion of p16/CDKN2A gene in malignant gliomas of Iranian patients.

作者信息

Zadeh Mohammad Dilmaghani, Amini Reza, Firoozray Mohsen, Derakhshandeh-Peykar Pupak

机构信息

Department of Biochemistry, Faculty of Medicine, Iran University of Medical Sciences, P.O. Box 14155-5983, Tehran, Iran.

出版信息

Pak J Biol Sci. 2007 Dec 1;10(23):4246-50. doi: 10.3923/pjbs.2007.4246.4250.

DOI:10.3923/pjbs.2007.4246.4250

PMID:19086579

Abstract

Homozygous deletion is the main mechanism of CDKN2A gene inactivation in malignant gliomas. However different frequencies were reported for its deletion. In order to find the homozygous deletion frequency among Iranian patients, we have analyzed the status of CDKN2A gene in 40 malignant gliomas and examined their lalpha and 2 exons by comparative multiplex Polymerase Chain Reaction (PCR), using D9S171 chromosomal marker as an internal control. We found homozygous deletion in 6 out of 7 cases (85.7%) of anaplastic astrocytomas and 20 out of 33 cases (60.6%) of glioblastoma multiforme, in total 26 out of 40 cases (65%) of malignant gliomas. We also found that CDKN2A deleted patients were younger than CDKN2A non-deleted patients and that exon 2 was deleted more than exon 1alpha.

摘要

纯合性缺失是恶性胶质瘤中CDKN2A基因失活的主要机制。然而，关于其缺失的频率报道有所不同。为了确定伊朗患者中纯合性缺失的频率，我们分析了40例恶性胶质瘤中CDKN2A基因的状态，并使用D9S171染色体标记作为内对照，通过比较多重聚合酶链反应（PCR）检测其第1α和第2外显子。我们发现，在7例间变性星形细胞瘤中有6例（85.7%）、33例多形性胶质母细胞瘤中有20例（60.6%）存在纯合性缺失，40例恶性胶质瘤中共有26例（65%）存在纯合性缺失。我们还发现，CDKN2A基因缺失的患者比未缺失的患者更年轻，并且第2外显子的缺失比第1α外显子更多。