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Title: Genetic alterations of the receptor for human androgene (HumARA) and its applicatoin in forensic medicine

Abstract:

Microsatellite sequences know also as short tandem repeats (STRs), have become the most commonly used markers for paternity testing and human identification. However, in some special cases gonosomal markers may be more informative than the autosomal STRs. Application chromosome X loci STR is today a subject of growing interest for forensic genetic. The aim of the presented study was to evaluate the application of the HumARA marker located on the long arm of the X chromosome at Xq11-12 of the androgen receptor (AR) gene in forensic medicine. DNA samples collected from 108 nuclear families of the Southern Poland origin were amplified with HumARA primers. Amplicons were resolved using an ABI Prism 377 Genetic Analyzer (Applied Biosystems) The amplified DNA fragment size was determined using GeneScan i Genotyper Software v. 3.7 (Applied Biosystems). The number of CAG repeats in the first exon of HumARA locus was obtained based on the direct sequencation of selected samples (HumARA*21 and HumARA*33) using DYEnamic ET Terminator Cycle Sequencing Kit (GE Healthcare Life). Data were analysed using Sequencing analysis v.3.7 software (Applied Biosystems, USA). Biostatistical parameters were calculated for determination of the usefulness of the HumARA marker in forensic genetics. Locus HumARA is highly polymorphic with allelic range from 14 to 36 repeats (116 – 182 bp). The genotype di ; stribution among the females conformed with Hardy-Weinberg expectations. The presented data qualify locus HumARA as a useful supplementary marker to the known forensic X-chromosome panel. Marker HumARA is suitable for use in kinship analyses and post-mortem identification. Additionally, genotyping of HumARA locus allows amplification of degraded DNA due to a small size of the target sequence, which can be used as miniSTR.

Place of publishing:

Kraków

Level of degree:

2 - studia doktoranckie

Degree discipline:

genetyka ; medycyna sądowa

Degree grantor:

Wydział Lekarski

Promoter:

Sanak, Marek

Date issued:

2010

Identifier:

oai:dl.cm-uj.krakow.pl:4977

Call number:

ZB-114718

Language:

pol

Access rights:

tylko w bibliotece

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Last modified:

Mar 15, 2023

In our library since:

Mar 15, 2023

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http://dl.cm-uj.krakow.pl:8080/publication/4978

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ZB-114718 Mar 15, 2023
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