Mutation at the Human D1S80 Minisatellite Locus
Little is known about the general biology of minisatellites. The purpose of this study is to examine repeat mutations from the D1S80 minisatellite locus by sequence analysis to elucidate the mutational process at this locus. This is a highly polymorphic minisatellite locus, located in the subtelomer...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | The Scientific World Journal |
| Online Access: | http://dx.doi.org/10.1100/2012/917235 |
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| author | Kuppareddi Balamurugan Martin L. Tracey Uwe Heine George C. Maha George T. Duncan |
| author_facet | Kuppareddi Balamurugan Martin L. Tracey Uwe Heine George C. Maha George T. Duncan |
| author_sort | Kuppareddi Balamurugan |
| collection | DOAJ |
| description | Little is known about the general biology of minisatellites. The purpose of this study is to examine repeat mutations from the D1S80 minisatellite locus by sequence analysis to elucidate the mutational process at this locus. This is a highly polymorphic minisatellite locus, located in the subtelomeric region of chromosome 1. We have analyzed 90,000 human germline transmission events and found seven (7) mutations at this locus. The D1S80 alleles of the parentage trio, the child, mother, and the alleged father were sequenced and the origin of the mutation was determined. Using American Association of Blood Banks (AABB) guidelines, we found a male mutation rate of 1.04×10-4
and a female mutation rate of 5.18×10-5 with an overall mutation rate of approximately 7.77×10-5. Also, in this study, we found that the identified mutations are in close proximity to the center of the repeat array rather than at the ends of the repeat array. Several studies have examined the mutational mechanisms of the minisatellites according to infinite allele model (IAM) and the one-step stepwise mutation model (SMM). In this study, we found that this locus fits into the one-step mutation model (SMM) mechanism in six out of seven instances similar to STR loci. |
| format | Article |
| id | doaj-art-1b3ffebd41bd413aad0372339ac6341b |
| institution | Kabale University |
| issn | 1537-744X |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | The Scientific World Journal |
| spelling | doaj-art-1b3ffebd41bd413aad0372339ac6341b2025-02-03T01:25:20ZengWileyThe Scientific World Journal1537-744X2012-01-01201210.1100/2012/917235917235Mutation at the Human D1S80 Minisatellite LocusKuppareddi Balamurugan0Martin L. Tracey1Uwe Heine2George C. Maha3George T. Duncan4School of Criminal Justice, University of Southern Mississippi, 118 College Drive # 5127, Hattiesburg, MS 39406, USADepartment of Biology, Florida International University, University Park Campus, Miami, FL 33199, USADNA Identification Testing Division, Laboratory Corporation of America, 1440 York Court Extension, Burlington, NC 27215, USADNA Identification Testing Division, Laboratory Corporation of America, 1440 York Court Extension, Burlington, NC 27215, USABroward County Sheriff's Office, Forensic Laboratory DNA Unit, Fort Lauderdale, FL 33301, USALittle is known about the general biology of minisatellites. The purpose of this study is to examine repeat mutations from the D1S80 minisatellite locus by sequence analysis to elucidate the mutational process at this locus. This is a highly polymorphic minisatellite locus, located in the subtelomeric region of chromosome 1. We have analyzed 90,000 human germline transmission events and found seven (7) mutations at this locus. The D1S80 alleles of the parentage trio, the child, mother, and the alleged father were sequenced and the origin of the mutation was determined. Using American Association of Blood Banks (AABB) guidelines, we found a male mutation rate of 1.04×10-4 and a female mutation rate of 5.18×10-5 with an overall mutation rate of approximately 7.77×10-5. Also, in this study, we found that the identified mutations are in close proximity to the center of the repeat array rather than at the ends of the repeat array. Several studies have examined the mutational mechanisms of the minisatellites according to infinite allele model (IAM) and the one-step stepwise mutation model (SMM). In this study, we found that this locus fits into the one-step mutation model (SMM) mechanism in six out of seven instances similar to STR loci.http://dx.doi.org/10.1100/2012/917235 |
| spellingShingle | Kuppareddi Balamurugan Martin L. Tracey Uwe Heine George C. Maha George T. Duncan Mutation at the Human D1S80 Minisatellite Locus The Scientific World Journal |
| title | Mutation at the Human D1S80 Minisatellite Locus |
| title_full | Mutation at the Human D1S80 Minisatellite Locus |
| title_fullStr | Mutation at the Human D1S80 Minisatellite Locus |
| title_full_unstemmed | Mutation at the Human D1S80 Minisatellite Locus |
| title_short | Mutation at the Human D1S80 Minisatellite Locus |
| title_sort | mutation at the human d1s80 minisatellite locus |
| url | http://dx.doi.org/10.1100/2012/917235 |
| work_keys_str_mv | AT kuppareddibalamurugan mutationatthehumand1s80minisatellitelocus AT martinltracey mutationatthehumand1s80minisatellitelocus AT uweheine mutationatthehumand1s80minisatellitelocus AT georgecmaha mutationatthehumand1s80minisatellitelocus AT georgetduncan mutationatthehumand1s80minisatellitelocus |