Differential pattern of genetic variability at the DXYS156 locus on homologous regions of X and Y chromosomes in Indian population and its forensic implications
Sex determination is routinely performed in forensic casework using the amelogenin-based sex test. The human amelogenin gene resides on homologous regions of the sex chromosomes. However, a deletion in the AmelY locus may sometimes lead to gender misidentification. The pentanucleotide microsatellite...
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| Veröffentlicht in: | International journal of legal medicine 2013, Vol.127 (1), p.1-6 |
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| description | Sex determination is routinely performed in forensic casework using the amelogenin-based sex test. The human amelogenin gene resides on homologous regions of the sex chromosomes. However, a deletion in the
AmelY
locus may sometimes lead to gender misidentification. The pentanucleotide microsatellite DXYS156 maps to the pseudoautosomal region of both the sex chromosomes and helps in sex determination. This STR offers an advantage of being multi-allelic, with delimited and demographically restricted alleles for the X and Y chromosomes. Also, the Y-specific alleles can be discerned from their X chromosomal counterpart due to an adenine insertion in the (TAAAA)
n
repeat units of the STR. The present study examines the differential variation pattern at the X and Y locus of this STR in unrelated males from linguistically and geographically diverse populations of India. The study also attempts to undertake a comparison between the two sex-determining markers through validation studies. Two population samples and few validation samples which showed erroneous results for the amelogenin locus produced alleles specific to each of the sex chromosomes at the DXYS156 locus. The error rate for the amelogenin locus was observed to be 0.27% in case of the population samples and 0.5% in case of validation samples. Statistical parameters of forensic interest indicate that the DXYS156 locus is polymorphic and discriminating for the Indian population. |
| doi_str_mv | 10.1007/s00414-011-0646-6 |
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AmelY
locus may sometimes lead to gender misidentification. The pentanucleotide microsatellite DXYS156 maps to the pseudoautosomal region of both the sex chromosomes and helps in sex determination. This STR offers an advantage of being multi-allelic, with delimited and demographically restricted alleles for the X and Y chromosomes. Also, the Y-specific alleles can be discerned from their X chromosomal counterpart due to an adenine insertion in the (TAAAA)
n
repeat units of the STR. The present study examines the differential variation pattern at the X and Y locus of this STR in unrelated males from linguistically and geographically diverse populations of India. The study also attempts to undertake a comparison between the two sex-determining markers through validation studies. Two population samples and few validation samples which showed erroneous results for the amelogenin locus produced alleles specific to each of the sex chromosomes at the DXYS156 locus. The error rate for the amelogenin locus was observed to be 0.27% in case of the population samples and 0.5% in case of validation samples. Statistical parameters of forensic interest indicate that the DXYS156 locus is polymorphic and discriminating for the Indian population.</description><identifier>ISSN: 0937-9827</identifier><identifier>EISSN: 1437-1596</identifier><identifier>DOI: 10.1007/s00414-011-0646-6</identifier><identifier>PMID: 22116399</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer-Verlag</publisher><subject>Adenine ; Amelogenin - genetics ; Chromosomes, Human, X ; Chromosomes, Human, Y ; Forensic Medicine ; Forensic sciences ; Gender ; Gene Frequency ; Genetic diversity ; Genetic Loci ; Genetic Variation ; Genetics, Population ; Humans ; India ; Male ; Males ; Medical Law ; Medicine ; Medicine & Public Health ; Microsatellite Repeats ; Original Article ; Polymerase Chain Reaction ; Sex chromosomes ; Sex Determination Analysis - methods ; X chromosomes ; Y chromosomes</subject><ispartof>International journal of legal medicine, 2013, Vol.127 (1), p.1-6</ispartof><rights>Springer-Verlag 2011</rights><rights>Springer-Verlag Berlin Heidelberg 2013</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c405t-93dbc1e74c3020b1aaede12493f340c1531d971d55c3dbd3d69ec4f4b082a9e63</citedby><cites>FETCH-LOGICAL-c405t-93dbc1e74c3020b1aaede12493f340c1531d971d55c3dbd3d69ec4f4b082a9e63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00414-011-0646-6$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00414-011-0646-6$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22116399$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mukerjee, Sanjukta</creatorcontrib><creatorcontrib>Mukherjee, Meeta</creatorcontrib><creatorcontrib>Ghosh, Tania</creatorcontrib><creatorcontrib>Kalpana, D.</creatorcontrib><creatorcontrib>Sharma, Anil Kumar</creatorcontrib><title>Differential pattern of genetic variability at the DXYS156 locus on homologous regions of X and Y chromosomes in Indian population and its forensic implications</title><title>International journal of legal medicine</title><addtitle>Int J Legal Med</addtitle><addtitle>Int J Legal Med</addtitle><description>Sex determination is routinely performed in forensic casework using the amelogenin-based sex test. The human amelogenin gene resides on homologous regions of the sex chromosomes. However, a deletion in the
AmelY
locus may sometimes lead to gender misidentification. The pentanucleotide microsatellite DXYS156 maps to the pseudoautosomal region of both the sex chromosomes and helps in sex determination. This STR offers an advantage of being multi-allelic, with delimited and demographically restricted alleles for the X and Y chromosomes. Also, the Y-specific alleles can be discerned from their X chromosomal counterpart due to an adenine insertion in the (TAAAA)
n
repeat units of the STR. The present study examines the differential variation pattern at the X and Y locus of this STR in unrelated males from linguistically and geographically diverse populations of India. The study also attempts to undertake a comparison between the two sex-determining markers through validation studies. Two population samples and few validation samples which showed erroneous results for the amelogenin locus produced alleles specific to each of the sex chromosomes at the DXYS156 locus. The error rate for the amelogenin locus was observed to be 0.27% in case of the population samples and 0.5% in case of validation samples. Statistical parameters of forensic interest indicate that the DXYS156 locus is polymorphic and discriminating for the Indian population.</description><subject>Adenine</subject><subject>Amelogenin - genetics</subject><subject>Chromosomes, Human, X</subject><subject>Chromosomes, Human, Y</subject><subject>Forensic Medicine</subject><subject>Forensic sciences</subject><subject>Gender</subject><subject>Gene Frequency</subject><subject>Genetic diversity</subject><subject>Genetic Loci</subject><subject>Genetic Variation</subject><subject>Genetics, Population</subject><subject>Humans</subject><subject>India</subject><subject>Male</subject><subject>Males</subject><subject>Medical Law</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Microsatellite Repeats</subject><subject>Original Article</subject><subject>Polymerase Chain Reaction</subject><subject>Sex chromosomes</subject><subject>Sex Determination Analysis - methods</subject><subject>X chromosomes</subject><subject>Y chromosomes</subject><issn>0937-9827</issn><issn>1437-1596</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><recordid>eNqFkc1u1TAQhS1ERS-FB2CDLLFhE-qxHed6iVp-KlXqApDaVeQ4k3tdJXawHaS-DY-K01sQQqpY2dZ8c86MDyGvgL0DxprTxJgEWTGAiimpKvWEbECKpoJaq6dkw3S56y1vjsnzlG4Zg0Y19TNyzDmAElpvyM9zNwwY0WdnRjqbnDF6Gga6Q4_ZWfrDRGc6N7p8R02meY_0_PrmC9SKjsEuiQZP92EKY9iF8oq4c8GnVeGaGt_TG2r3sdRTmDBR5-mF753xdA7zMppc4HvM5USHUOZIxdNN8-jsfTG9IEeDGRO-fDhPyLePH76efa4urz5dnL2_rKxkda606DsL2EgrGGcdGIM9ApdaDEIyC7WAXjfQ17UtZC96pdHKQXZsy41GJU7I24PuHMP3BVNuJ5csjqPxWBZrQWquuCq_-3-UN4LXWwbbgr75B70NS_RlkUIpJZsy7eoNB8rGkFLEoZ2jm0y8a4G1a9LtIem2JN2uSbdrz-sH5aWbsP_T8TvaAvADkErJ7zD-Zf2o6i8Hg7Td</recordid><startdate>2013</startdate><enddate>2013</enddate><creator>Mukerjee, Sanjukta</creator><creator>Mukherjee, Meeta</creator><creator>Ghosh, Tania</creator><creator>Kalpana, D.</creator><creator>Sharma, Anil Kumar</creator><general>Springer-Verlag</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>0-V</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AM</scope><scope>8AO</scope><scope>8FE</scope><scope>8FG</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ALSLI</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BGRYB</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>HCIFZ</scope><scope>K7.</scope><scope>K9.</scope><scope>L6V</scope><scope>M0O</scope><scope>M0S</scope><scope>M1P</scope><scope>M7S</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>Q9U</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>2013</creationdate><title>Differential pattern of genetic variability at the DXYS156 locus on homologous regions of X and Y chromosomes in Indian population and its forensic implications</title><author>Mukerjee, Sanjukta ; Mukherjee, Meeta ; Ghosh, Tania ; Kalpana, D. ; Sharma, Anil Kumar</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c405t-93dbc1e74c3020b1aaede12493f340c1531d971d55c3dbd3d69ec4f4b082a9e63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adenine</topic><topic>Amelogenin - genetics</topic><topic>Chromosomes, Human, X</topic><topic>Chromosomes, Human, Y</topic><topic>Forensic Medicine</topic><topic>Forensic sciences</topic><topic>Gender</topic><topic>Gene Frequency</topic><topic>Genetic diversity</topic><topic>Genetic Loci</topic><topic>Genetic Variation</topic><topic>Genetics, Population</topic><topic>Humans</topic><topic>India</topic><topic>Male</topic><topic>Males</topic><topic>Medical Law</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Microsatellite Repeats</topic><topic>Original Article</topic><topic>Polymerase Chain Reaction</topic><topic>Sex chromosomes</topic><topic>Sex Determination Analysis - methods</topic><topic>X chromosomes</topic><topic>Y chromosomes</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mukerjee, Sanjukta</creatorcontrib><creatorcontrib>Mukherjee, Meeta</creatorcontrib><creatorcontrib>Ghosh, Tania</creatorcontrib><creatorcontrib>Kalpana, D.</creatorcontrib><creatorcontrib>Sharma, Anil Kumar</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Social Sciences Premium Collection</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Criminal Justice Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>Social Science Premium Collection</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Criminology Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Criminal Justice (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Engineering Collection</collection><collection>Criminal Justice Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Engineering Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Engineering Collection</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>International journal of legal medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mukerjee, Sanjukta</au><au>Mukherjee, Meeta</au><au>Ghosh, Tania</au><au>Kalpana, D.</au><au>Sharma, Anil Kumar</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Differential pattern of genetic variability at the DXYS156 locus on homologous regions of X and Y chromosomes in Indian population and its forensic implications</atitle><jtitle>International journal of legal medicine</jtitle><stitle>Int J Legal Med</stitle><addtitle>Int J Legal Med</addtitle><date>2013</date><risdate>2013</risdate><volume>127</volume><issue>1</issue><spage>1</spage><epage>6</epage><pages>1-6</pages><issn>0937-9827</issn><eissn>1437-1596</eissn><abstract>Sex determination is routinely performed in forensic casework using the amelogenin-based sex test. The human amelogenin gene resides on homologous regions of the sex chromosomes. However, a deletion in the
AmelY
locus may sometimes lead to gender misidentification. The pentanucleotide microsatellite DXYS156 maps to the pseudoautosomal region of both the sex chromosomes and helps in sex determination. This STR offers an advantage of being multi-allelic, with delimited and demographically restricted alleles for the X and Y chromosomes. Also, the Y-specific alleles can be discerned from their X chromosomal counterpart due to an adenine insertion in the (TAAAA)
n
repeat units of the STR. The present study examines the differential variation pattern at the X and Y locus of this STR in unrelated males from linguistically and geographically diverse populations of India. The study also attempts to undertake a comparison between the two sex-determining markers through validation studies. Two population samples and few validation samples which showed erroneous results for the amelogenin locus produced alleles specific to each of the sex chromosomes at the DXYS156 locus. The error rate for the amelogenin locus was observed to be 0.27% in case of the population samples and 0.5% in case of validation samples. Statistical parameters of forensic interest indicate that the DXYS156 locus is polymorphic and discriminating for the Indian population.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer-Verlag</pub><pmid>22116399</pmid><doi>10.1007/s00414-011-0646-6</doi><tpages>6</tpages></addata></record> |
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| subjects | Adenine Amelogenin - genetics Chromosomes, Human, X Chromosomes, Human, Y Forensic Medicine Forensic sciences Gender Gene Frequency Genetic diversity Genetic Loci Genetic Variation Genetics, Population Humans India Male Males Medical Law Medicine Medicine & Public Health Microsatellite Repeats Original Article Polymerase Chain Reaction Sex chromosomes Sex Determination Analysis - methods X chromosomes Y chromosomes |
| title | Differential pattern of genetic variability at the DXYS156 locus on homologous regions of X and Y chromosomes in Indian population and its forensic implications |
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