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The HumARA genotype is linked to spinal and bulbar muscular dystrophy and some further disease risks and should no longer be used as a DNA marker for forensic purposes.

作者信息

Szibor Reinhard, Hering Sandra, Edelmann Jeanett

出版信息

Int J Legal Med. 2005 May;119(3):179-80. doi: 10.1007/s00414-005-0525-0. Epub 2005 Feb 3.

DOI:10.1007/s00414-005-0525-0
PMID:15690183
Abstract
摘要

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1
The HumARA genotype is linked to spinal and bulbar muscular dystrophy and some further disease risks and should no longer be used as a DNA marker for forensic purposes.HumARA基因型与脊髓性延髓肌萎缩症以及其他一些疾病风险相关联，不应再用作法医鉴定的DNA标记物。
Int J Legal Med. 2005 May;119(3):179-80. doi: 10.1007/s00414-005-0525-0. Epub 2005 Feb 3.
2
Pure bulbar motor neuron involvement linked to an abnormal CAG repeat expansion in the androgen receptor gene.纯延髓运动神经元受累与雄激素受体基因中异常的CAG重复序列扩增有关。
Amyotroph Lateral Scler. 2008 Feb;9(1):40-2. doi: 10.1080/17482960701553915.
3
[Treatment of spinal and bulbar muscular atrophy].[脊髓延髓肌肉萎缩症的治疗]
No To Shinkei. 2004 Sep;56(9):772-9.
4
[A mother and her son with autosomal dominant bulbar spinal muscular atrophy].[一位患有常染色体显性延髓脊髓性肌萎缩症的母亲和她的儿子]
Rinsho Shinkeigaku. 1992 Sep;32(9):1038-40.
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Long polyglutamine tracts in the androgen receptor are associated with reduced trans-activation, impaired sperm production, and male infertility.雄激素受体中的长聚谷氨酰胺序列与转录激活减少、精子生成受损及男性不育相关。
J Clin Endocrinol Metab. 1997 Nov;82(11):3777-82. doi: 10.1210/jcem.82.11.4385.
6
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Muscle Nerve. 2008 Aug;38(2):964-71. doi: 10.1002/mus.21077.
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Association between androgen receptor gene CAG trinucleotide repeat length and testicular histology in older men.老年男性雄激素受体基因CAG三核苷酸重复序列长度与睾丸组织学之间的关联。
Fertil Steril. 2006 Oct;86(4):873-7. doi: 10.1016/j.fertnstert.2006.03.035.
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Longer trinucleotide repeats of androgen Receptor Gene: Infertility in males.雄激素受体基因较长的三核苷酸重复序列：男性不育
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Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy.脊髓延髓性肌萎缩症中雄激素受体蛋白的非神经核内包涵体
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引用本文的文献

1
Twenty Years Later: A Comprehensive Review of the X Chromosome Use in Forensic Genetics.二十年后：法医遗传学中X染色体应用的全面综述
Front Genet. 2020 Sep 17;11:926. doi: 10.3389/fgene.2020.00926. eCollection 2020.
2
Forensic Autosomal Short Tandem Repeats and Their Potential Association With Phenotype.法医常染色体短串联重复序列及其与表型的潜在关联。
Front Genet. 2020 Aug 6;11:884. doi: 10.3389/fgene.2020.00884. eCollection 2020.
3
Effective strategies for forensic analysis in the mitochondrial DNA coding region.线粒体DNA编码区法医分析的有效策略。

本文引用的文献

1
X-linked microsatellites in two Northern Spain populations.西班牙北部两个群体中的X连锁微卫星
Forensic Sci Int. 2004 Oct 4;145(1):57-9. doi: 10.1016/j.forsciint.2004.02.025.
2
Genetic characteristics and population study of 4 X-chromosomal STRs in Koreans: evidence for a null allele at DXS9898.韩国人群中4个X染色体短串联重复序列的遗传特征及群体研究：DXS9898存在无效等位基因的证据
Int J Legal Med. 2004 Dec;118(6):355-60. doi: 10.1007/s00414-004-0456-1. Epub 2004 Jun 8.
3
The androgen receptor gene mutations database (ARDB): 2004 update.
Int J Legal Med. 2006 Jan;120(1):27-32. doi: 10.1007/s00414-005-0044-z. Epub 2005 Oct 28.
雄激素受体基因突变数据库（ARDB）：2004年更新版。
Hum Mutat. 2004 Jun;23(6):527-33. doi: 10.1002/humu.20044.
4
Cell line DNA typing in forensic genetics--the necessity of reliable standards.法医遗传学中的细胞系DNA分型——可靠标准的必要性。
Forensic Sci Int. 2003 Dec 17;138(1-3):37-43. doi: 10.1016/j.forsciint.2003.09.002.
5
Five highly informative X-chromosomal STRs in Koreans.韩国人中五个信息丰富的X染色体短串联重复序列
Int J Legal Med. 2004 Feb;118(1):37-40. doi: 10.1007/s00414-003-0415-2. Epub 2003 Nov 22.
6
Prostate volume and growth in testosterone-substituted hypogonadal men are dependent on the CAG repeat polymorphism of the androgen receptor gene: a longitudinal pharmacogenetic study.睾酮替代治疗的性腺功能减退男性的前列腺体积和生长依赖于雄激素受体基因的CAG重复多态性：一项纵向药物遗传学研究。
J Clin Endocrinol Metab. 2003 May;88(5):2049-54. doi: 10.1210/jc.2002-021947.
7
Use of X-linked markers for forensic purposes.用于法医目的的X连锁标记物的应用。
Int J Legal Med. 2003 Apr;117(2):67-74. doi: 10.1007/s00414-002-0352-5. Epub 2003 Feb 15.
8
A new pentaplex system to study short tandem repeat markers of forensic interest on X chromosome.一种用于研究X染色体上法医鉴定相关短串联重复序列标记的新型五重分析系统。
Forensic Sci Int. 2002 Sep 26;129(2):85-9. doi: 10.1016/s0379-0738(02)00228-1.
9
16 X-chromosome STR loci frequency data from a German population.来自德国人群的16个X染色体短串联重复序列（STR）位点频率数据。
Forensic Sci Int. 2001 Dec 27;124(2-3):215-8. doi: 10.1016/s0379-0738(01)00565-5.
10
Automated fluorescence analysis of CAG repeats at the human androgen receptor gene (HUMARA): evaluation of polymorphism in an Italian sample and report of a new allele.人雄激素受体基因（HUMARA）中CAG重复序列的自动化荧光分析：意大利样本中多态性的评估及一个新等位基因的报告
Am J Forensic Med Pathol. 2001 Mar;22(1):55-7. doi: 10.1097/00000433-200103000-00010.