Identification of a rare tri-allelic inheritance at the D8S1179 locus in a case of paternity testing
作者： Uthandaraman Mahalinga Raja , Dhanapal Thilaga , Nithyanandam Mahalakshmi , Teena Koshy , Rajiv Rose
DOI: 10.1016/J.MGENE.2020.100658
关键词:
摘要: Abstract Short Tandem Repeat (STR) typing is routinely used in forensic casework, paternity disputes and the detection of aneuploidies. Anomalous peak patterns are occasionally encountered STR due to genetic variations, mutations and, other abnormalities. We report here a rare tri-allelic variant at D8S1179 locus 6-month-old female child, observed during routine testing Indian Tamil population. DNA eluted from blood samples collected on FTA elute microcards were subjected for autosomal sex loci using commercial AmpFlSTR Identifiler Plus kit Promega PowerPlex® Fusion kit. Capillary electrophoresis was carried out ABI 3130xl Genetic Analyzer genotyped GeneMapper ID-X Software v1.5. Copy number variations aneuploidy status chromosome 8 analyzed Multiplex ligation-dependent probe amplification (MLPA) Prenatal BoBs assays. In this case exclusion, child displayed Type II pattern (10,13,14) locus. addition, mother an abnormal 10,14 genotype (with heterozygous imbalance - 2:1) suggesting 10,10,14 pattern. MLPA prenatal analyses did not detect any abnormalities 8. These results suggest intrachromosomal segmental duplication event (8q24.13) as reason behind its inheritance. Understanding anomalous cases such these can help appropriate interpretation typing.
sci-hub.se 参考文章(18)
Katherine Butler Gettings, Rachel A. Aponte, Peter M. Vallone, John M. Butler, STR allele sequence variation: Current knowledge and future issues. Forensic Science International-genetics. ,vol. 18, pp. 118- 130 ,(2015) , 10.1016/J.FSIGEN.2015.06.005
Francesca Romana Grati, Denise Molina Gomes, Jose Carlos Pinto B. Ferreira, Celine Dupont, Viola Alesi, Laetitia Gouas, Nina Horelli-Kuitunen, Kwong Wai Choy, Sandra García-Herrero, Alberto Gonzalez de la Vega, Krzysztof Piotrowski, Rita Genesio, Gloria Queipo, Barbara Malvestiti, Bérénice Hervé, Brigitte Benzacken, Antonio Novelli, Philippe Vago, Kirsi Piippo, Tak Yeung Leung, Federico Maggi, Thibault Quibel, Anne Claude Tabet, Giuseppe Simoni, François Vialard, Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies Prenatal Diagnosis. ,vol. 35, pp. 801- 809 ,(2015) , 10.1002/PD.4613
Christopher Vidal, Marisa Cassar, A case of tri-allelic pattern at locus D3S1358 on chromosome 3p21 inherited from paternal grandmother Forensic Science International-genetics. ,vol. 2, pp. 372- 375 ,(2008) , 10.1016/J.FSIGEN.2008.06.002
John M. Butler, Genetics and genomics of core short tandem repeat loci used in human identity testing. Journal of Forensic Sciences. ,vol. 51, pp. 253- 265 ,(2006) , 10.1111/J.1556-4029.2006.00046.X
Tim M. Clayton, Jennifer L. Guest, Andy J. Urquhart, Peter D. Gill, A genetic basis for anomalous band patterns encountered during DNA STR profiling. Journal of Forensic Sciences. ,vol. 49, pp. 1207- 1214 ,(2004) , 10.1520/JFS2003145
G. Mertens, S. Rand, E. Jehaes, N. Mommers, E. Cardoen, I. De Bruyn, G. Leijnen, K. Van Brussel, W. Jacobs, Observation of tri-allelic patterns in autosomal STRs during routine casework Forensic Science International: Genetics Supplement Series. ,vol. 2, pp. 38- 40 ,(2009) , 10.1016/J.FSIGSS.2009.07.005
Erlie Jiang, Jie Pan, Mingzhe Han, Liang Chen, Qiaoling Ma, Jialin Wei, Yong Huang, Sizhou Feng, Qin Sun, Peili Xiao, Zhongzheng Zheng, Tri-allelic patterns at the D7S820 locus detected in two generations of a Chinese family International Journal of Legal Medicine. ,vol. 130, pp. 23- 26 ,(2016) , 10.1007/S00414-015-1166-6
Juliane Bentes Picanço, Paulo Eduardo Raimann, Carlos Henrique Ares Silveira da Motta, Rodrigo Rodenbusch, Leonor Gusmão, Clarice Sampaio Alho, Identification of the third/extra allele for forensic application in cases with TPOX tri-allelic pattern Forensic Science International-genetics. ,vol. 16, pp. 88- 93 ,(2015) , 10.1016/J.FSIGEN.2014.11.016
C. Robbins, J. B. Torres, S. Hooker, C. Bonilla, W. Hernandez, A. Candreva, C. Ahaghotu, R. Kittles, J. Carpten, Confirmation study of prostate cancer risk variants at 8q24 in African Americans identifies a novel risk locus Genome Research. ,vol. 17, pp. 1717- 1722 ,(2007) , 10.1101/GR.6782707
D J Bunyan, D M Eccles, J Sillibourne, E Wilkins, N Simon Thomas, J Shea-Simonds, P J Duncan, C E Curtis, D O Robinson, J F Harvey, N C P Cross, Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification British Journal of Cancer. ,vol. 91, pp. 1155- 1159 ,(2004) , 10.1038/SJ.BJC.6602121