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[血清素转运体基因插入/缺失多态性、5-羟色胺2A受体基因T102C多态性与精神分裂症之间缺乏关联性——基于家系的研究]

[Lack of association between the insertion/deletion polymorphism in serotonin transporter gene, T102C polymorphism of the 5HT2A receptor gene and schizophrenia--family based study].

作者信息

Kapelski Paweł, Hauser Joanna, Skibińska Maria, Szczepankiewicz Aleksandra, Dmitrzak-Weglarz Monika, Budziński Bartłomiej, Gorzkowska Karolina, Czerski Piotr M

机构信息

Zakład Genetyki w Psychiatrii Katedry Psychiatrii UM w Poznaniu.

出版信息

Psychiatr Pol. 2010 Mar-Apr;44(2):197-206.

Abstract

AIM

The aim of the study was to estimate the transmission of two candidate genes' alleles (according to the serotonergic hypothesis of schizophrenia) by parents to their children with schizophrenia. The genes under investigation were the following: 5HTR2A (polymorphism T102C) and SLC6A4 (polymorphism 5-HTTLPR).

METHOD

There were 116 families in the group under investigation (patient and his/her both parents). Due to the missing genotypes or unlikely inheritance (other biological parent or genotyping error) the number of analysed trios differs for particular polymorphisms (these trios were not excluded from the study, however they were not analysed in the case of a given polymorphism). The patients and their parents were examined using the SCID (Structured Clinical Interview for DSM-IV Axis I Disorders). No mental disorders were found with all the patients' parents. The DNA was extracted from the peripheral blood leukocytes by the salting out method. The polymorphisms were studied by the PCR method (PCR-RFLP method for: 5HTR2A and PCR-VNTR method for: SLC6A4). The statistical analysis of the frequency of transmission of alleles was carried out by the TDT (Transmission Disequilibrium Test) method. To analyse the transmission disequilibrium of alleles under examination, the Haploview v. 3.2. programme was used.

RESULTS

According to the results obtained, no association between the analysed polymorphism of genes: 5HTR2A (T102C), SLC6A4 (5-HTTLPR) and schizophrenia was found.

CONCLUSIONS

Thus it seems advisable to carry out further examinations of the role of these polymorphisms in schizophrenia by means of TDT method and the classical association method.

摘要

目的

本研究旨在评估(根据精神分裂症的血清素能假说)两个候选基因的等位基因从父母向其精神分裂症子女的传递情况。所研究的基因如下:5HTR2A(多态性T102C)和SLC6A4(多态性5-HTTLPR)。

方法

被研究组有116个家庭(患者及其父母双方)。由于基因型缺失或不太可能的遗传情况(另一方生物学父母或基因分型错误),特定多态性的分析三联体数量有所不同(然而,这些三联体未被排除在研究之外,但在给定多态性的情况下未进行分析)。使用SCID(《精神疾病诊断与统计手册》第四版轴I障碍结构化临床访谈)对患者及其父母进行检查。所有患者的父母均未发现精神障碍。通过盐析法从外周血白细胞中提取DNA。采用PCR方法研究多态性(5HTR2A采用PCR-RFLP方法,SLC6A4采用PCR-VNTR方法)。采用TDT(传递不平衡检验)方法对等位基因传递频率进行统计分析。为分析所检测等位基因的传递不平衡,使用了Haploview v. 3.2程序。

结果

根据所得结果,未发现所分析的基因多态性:5HTR2A(T102C)、SLC6A4(5-HTTLPR)与精神分裂症之间存在关联。

结论

因此,似乎有必要通过TDT方法和经典关联方法进一步研究这些多态性在精神分裂症中的作用。

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