[1]林鉆芳.20個常染色體STR基因座的突變分析[J].醫學信息,2020,(04):133-135.[doi:10.3969/j.issn.1006-1959.2020.04.042]
 LIN Zuan-fang.Mutation Analysis of 20 Autosomal STR Loci[J].Medical Information,2020,(04):133-135.[doi:10.3969/j.issn.1006-1959.2020.04.042]
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20個常染色體STR基因座的突變分析()
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醫學信息[ISSN:1006-1959/CN:61-1278/R]

卷:
期數:
2020年04期
頁碼:
133-135
欄目:
調查分析
出版日期:
2020-02-15

文章信息/Info

Title:
Mutation Analysis of 20 Autosomal STR Loci
文章編號:
1006-1959(2020)04-0133-03
作者:
林鉆芳
(廣東經緯司法鑒定所,廣東 佛山 528000)
Author(s):
LIN Zuan-fang
(Guangdong Jingwei Forensic Laboratory,Foshan 528000,Guangdong,China)
關鍵詞:
親子鑒定法醫物證學STR基因座突變
Keywords:
Paternity testForensic physical evidenceSTR lociMutation
分類號:
DF79
DOI:
10.3969/j.issn.1006-1959.2020.04.042
文獻標志碼:
A
摘要:
目的 分析20個常染色體STR基因座的突變情況。方法 收集2015~2018年廣東經緯司法鑒定所5862例親子鑒定案件,篩選出基因突變事件,統計基因座的突變率、突變詳情,分析各STR基因座的突變規律。結果 確定為“支持”結論的5862例案件中,三聯體案件3546例,二聯體案件2316例,共觀察到9408次減數分裂。5862例案件中201次突變事件,三聯體突變次數為160次,平均突變率為0.1068%(95%CI:0.0510~0.1954),累計突變率達到2.1365%(95%CI:1.8539~2.4492)。20個STR基因座中觀察到18個基因座存在突變現象,其中CSF1PO與FGA突變率最高,Penta D突變率最低,僅TH01、TPOX基因座未發現突變事件。201次突變事件中,一步突變196次,二步突變3次,三步突變2次。父源突變150次,三聯體113次,二聯體37次,母源突變25次,三聯體21次,二聯體4次,不確定父/母突變26次,父源與母源突變比例為6∶1。結論 STR基因座突變現象日益增加,其中CSF1PO與FGA突變率最高,Penta D突變率最低,父源突變多余母源突變。若出現1~3個STR基因座不符合遺傳規律,特別是突變基因座為純合子等位基因或近親鑒定時,應謹慎分析判斷突變的具體情況。
Abstract:
Objective To analyze the mutations of 20 autosomal STR loci.Methods A total of 5,862 paternity test cases from Guangdong Jingwei Forensic Laboratory were collected from 2015 to 2018, and gene mutation events were screened, the mutation rate and details of the mutations were counted, and the mutation rules of each STR loci were analyzed.Results Of the 5,862 cases identified as "supporting", 3,546 cases of triad cases and 2,316 cases of duo cases, a total of 9,408 meiotic cases were observed. There were 201 mutation events in 5862 cases, and the number of triplet mutations was 160. The average mutation rate was 0.1068%(95% CI: 0.0510~0.1954), and the cumulative mutation rate reached 2.1365%(95% CI: 1.8539~2.4492). Among 20 STR loci, mutations were observed in 18 loci, among which CSF1PO and FGA had the highest mutation rates and Penta D had the lowest mutation rates. Only TH01 and TPOX loci had no mutation events. Among 201 mutation events, 196 mutations occurred in one step, 3 mutations in 2 steps, and 2 mutations in 3 steps. 150 paternal mutations, 113 triplets, 37 duplexes, 25 maternal mutations, 21 triads, 4 duplexes, 26 uncertain parent/mother mutations, and ratio of paternal to maternal mutations is 6∶1.Conclusion The mutation phenomenon of STR loci is increasing day by day. Among them, the mutation rate of CSF1PO and FGA is the highest, and the mutation rate of Penta D is the lowest. If the occurrence of 1 to 3 STR loci does not conform to the genetic law, especially when the mutation locus is a homozygous allele or the identification of a close relative, the specific situation of the mutation should be analyzed carefully.

參考文獻/References:

[1]侯一平,王保捷,李莉.法醫物證司法鑒定實務[M]北京:法律出版社,2012. [2]陳玲,劉超,邱平明,等.STRtyper-10G系統9個STR基因座突變分析[J].中國法醫學雜志,2014,29(5):420-423. [3]邱平明,陳玲,余嘉欣,等.法醫學常用15個STR基因座的突變分析[J].分子診斷與治療雜志,2016,8(4):222-226. [4]畢潔,暢晶晶,李妙霞,等.20723例親子鑒定中19個STR基因座的突變分析[J].中國法醫學雜志,2017,33(3):263-266. [5]帥莉,汪軍,景強,等.1483例親子鑒定STR基因座突變的分析[J].法醫學雜志,2014,30(1):44-46 [6]張林,王克杰,武紅艷,等.河南漢族群體20個常用STR基因座突變分析[J].中國法醫學雜志,2017,32(1):33-35. [7]胡利平,聶愛婷,張秀峰,等.云南人群1199例親子鑒定案件基因突變分析[J].廣東醫學,2016,37(9):1370-1372. [8]趙佩翔,陳鵬宇,于麗梅.法醫物證檢驗中常染色體STR位點突變的研究進展[J].遵義醫學院學報,2019,42(3):350-354. [9]孟慶麗,于衛建,葉萍,等.41例常染色體STR基因座突變的觀察與分析[J].中國法醫學雜志,2011,26(4):313-314.

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更新日期/Last Update: 2020-02-15
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