期刊论文详细信息
BMC Genetics
Reconstructing recent human phylogenies with forensic STR loci: A statistical approach
Faisal Khan2  Suraksha Agrawal1 
[1] Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow (UP) 226014 India;Department of Biotechnology, Bundelkhand University, Jhansi (UP), India
关键词: PC plot;    Maximum likelihood;    Neighbor-joining;    Phylogeny;    Forensic;    Short tandem repeats;   
Others  :  1143580
DOI  :  10.1186/1471-2156-6-47
 received in 2005-05-29, accepted in 2005-09-28,  发布年份 2005
【 摘 要 】

Background

Forensic Short Tandem Repeat (STR) loci are effective for the purpose of individual identification, and other forensic applications. Most of these markers have high allelic variability and mutation rate because of which they have limited use in the phylogenetic reconstruction. In the present study, we have carried out a meta-analysis to explore the possibility of using only five STR loci (TPOX, FES, vWA, F13A and Tho1) to carry out phylogenetic assessment based on the allele frequency profile of 20 world population and north Indian Hindus analyzed in the present study.

Results

Phylogenetic analysis based on two different approaches – genetic distance and maximum likelihood along with statistical bootstrapping procedure involving 1000 replicates was carried out. The ensuing tree topologies and PC plots were further compared with those obtained in earlier phylogenetic investigations. The compiled database of 21 populations got segregated and finely resolved into three basal clusters with very high bootstrap values corresponding to three geo-ethnic groups of African, Orientals, and Caucasians.

Conclusion

Based on this study we conclude that if appropriate and logistic statistical approaches are followed then even lesser number of forensic STR loci are powerful enough to reconstruct the recent human phylogenies despite of their relatively high mutation rates.

【 授权许可】

   
2005 Agrawal and Khan; licensee BioMed Central Ltd.

附件列表
Files Size Format View
Figure 1. 48KB Image download
Figure 1. 64KB Image download
【 图 表 】

Figure 1.

Figure 1.

【 参考文献 】
  • [1]Jaffereys AJ, Tamaki K, Macloed A: Complex gene conversion events in germline mutation in human minisatellites. Nature Genet 1994, 6:136-145.
  • [2]Hammond H, Jin L, Zhong Y, Caskey C, Chakraborty R: Evaluation of 13 short tandems repeat loci for use in personal identification applications. Am J Hum Genet 1994, 55:175-189.
  • [3]Agrawal S, Khan F, Talwar S, Nityanand S: Short tandem repeat technology has diverse applications: individual identification, phylogenetic reconstruction and chimerism based post haematopoietic stem cell transplantation graft monitoring. Indian J Med Sci 2004, 58:297-304.
  • [4]Hearne C, Ghosh S, Todd J: Microsatellites for linkage analysis of genetic traits. Trends Genet 1992, 8:288-295.
  • [5]Agrawal S, Muller B, Bharadwaj U, Bhatnagar S, Sharma A, Khan F, Agarwal SS: Microsatellite variation at 24 STR loci in three endogamous groups of Uttar Pradesh, India. Hum Biol 2003, 75:97-104.
  • [6]Rowold DJ, Herrera RJ: Inferring recent human phylogenies using forensic STR technology. Forensic Science International 2003, 133:260-265.
  • [7]Shriver MD, Jin E, Ferrel RE: Microsatellite data supports an early population expansion in Africa. Genome Res 1997, 7:586-591.
  • [8]Brinkmann B, Klintschar M, Neuhuber F, Huhne J, Rolf B: Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am J Hum Genet 1998, 62:1408-1415.
  • [9][http://www.uni-duesseldorf.de/WWW/MedFak/Serology/database.html] webcite
  • [10]Balakrishnan V: A preliminary study of genetic distances among some populations of the Indian sub-continent. J Hum Evol 1978, 7:67-75.
  • [11]Majumder P: Ethnic populations of India as seen from an evolutionary perspective. J Biosci 2001, 26:533-545.
  • [12]Bamshad M, Kivisild T, Watkins WS, Dixon ME, Ricker CE, Rao BB, Naidu JM, Raviprasad BV, Reddy PG, Rasanayagam A, Papiha SS, Villems R, Redd AJ, Hammer MF, Nguyen SV, Carroll ML, Batzer MA, Jorde LB: Genetic evidence on the origin of Indian caste populations. Genome research 2001, 11:994-1004.
  • [13]Felsenstein J: Phylogeny Inference Package (PHYLIP) version 3.5c/distributed by The author. Department of Genetics, University of Washington, Seattle; 1993.
  • [14]Nei M: Genetic distance between populations. Am Nat 1973, 106:283-292.
  • [15]Cavalli-Sforza LL, Feldman MW: The application of molecular genetic approaches to the study of human evolution. Nature Genetics 2003, 33:266-275.
  • [16]Passarino G, Semino O, Quintana-Murci L, Excoffier L, Hammer M, Santachiara-Benerecetti AS: Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome poymorphisms. Am J Hum Gen 1998, 62:420-34.
  • [17]Underhill PA, Passarino GP, Lin AA, Shen P, Mirazon-lahr M, Foley RA, Oefner PJ, Cavalli-Sforza LL: The phylogeography of y-chromosome binary haplotypes and origin of modern human populations. Annals of human genetics 2000, 65:43-62.
  • [18]Al-Zahery N, Semino O, Benuzzi G, Magri C, Passarino G, Torroni A, Santachiara-Benerecetti AS: Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations. Mol Phylogenet Evol 2003, 28:458-472.
  • [19]Bowcock , Ruiz-Linares A, Tomfohrde J, Minch E, Kidd JR, Cavall-Sforza LL: High resolution of human evolutionary trees with polymorphic microsatellites. Nature 1994, 368:455-457.
  • [20]Perez-Lezaun A, Calafell F, Mateu E, Comas D, Bosch E, Bertranpetit J: Allele frequency for 20 microsatellites in a worldwide population survey. Hum Hered 1997, 47:189-96.
  • [21]Budowle B, Chakraborty R: Population variation at the CODIS core short tandem repeat loci in Europeans. Legal Med 2001, 3:29-33.
  • [22]Comey CT, Budowle B, Adams DE, Baumstark AL, Lindsey JA, Presley LA: PCR amplification and typing of the HLA DQ alpha gene in forensic samples. J Forensic Sci 1993, 38(2):239-49.
  • [23]Marshall T: Cervus statistical software, Ver. 1.0. University of Edinburgh; 1998.
  • [24]Semino O, Passarino G, Oefner P, Lin AA, Arbuzova S, Beckman LE, de benedicts G, Francalacci P, Kouvatsi A, Limborska S, Marcikiae M, Mika A, Mika B, Primorak D, Santachiara-Benerecetti AS, Cavalli-Sforza LL, Underhill PA: The genetic legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: AQ Y-chromosme perspective. Science 2000, 290:1115-59.
  文献评价指标  
  下载次数:4次 浏览次数:21次