Open Access Open Access  Restricted Access Subscription Access
Open Access Open Access Open Access  Restricted Access Restricted Access Subscription Access

Mutation in Paternally Transmitted Alleles at FGA Microsatelite Locus: a Case of Allele Mismatch in the Child


Affiliations
1 National Forensic DNA Profiling Laboratory, Dhaka Medical College, Bangladesh, Bangladesh
2 Department of Biochemistry & Molecular Biology, University of Dhaka, Bangladesh, Bangladesh
     

   Subscribe/Renew Journal


We investigated a case of paternity dispute with 10 autosomal STR loci and found a mismatch in one of the alleles of the FGA locus in the child. The composition of alleles of this locus in the mother, child and alleged father were, 19/24, 23/ 24 and 22/24 respectively. The combined paternity index (CPI) and probability of paternity (W) after including the mutation in the calculation was 2,932 and 0.9998 respectively which favored the paternity of alleged father as the biological father of the child. Inclusion of more loci in the analysis provided even stronger evidence in favor of paternity (CPI = 24,013, W = 0.99997). Further analysis using 16 Y-chromosome STR loci, revealed matching of all Y-chromosome alleles of the child with that of the alleged father. Since there was a perfect match of all the paternal alleles inherited (autosomal and Y-chromosomal STRs) in the child with those of the alleged father except the allele at FGA, it might therefore be a case of mutation. The results suggest that, either there was expansion of a complete repeat of the paternal allele 22 or a loss of a complete repeat from paternal allele 24 which was transmitted as allele 23 in the child.

Keywords

Allele, Genotype, Locus, Microsatellites, PCR, Mutation
Subscription Login to verify subscription
User
Notifications
Font Size


  • Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, et al. International Human Genome Sequencing Consortium. Initial sequencing and analysis of human genome. Nature 2001; 409: 860-921.
  • Weber JL. Informativeness of human (dC-dA)n.(dG-dT)n polymorphism. Genomics 1990; 7: 524-530.
  • Levinson G, Gutman GA. Slippage strand mispriming: a major mechanism for DNA sequence evolution. Mol. Biol. Evol. 1978; 4: 203-221.
  • Schlottere C, Tautz D. Slippage synthesis of simple sequence DNA. Nucleic Acid Res. 1992; 20: 211-215.
  • Walsh PS, Metzger DA, Higuchi R. Chelex 100 as a simple medium for simple extraction of DNA for PCR-based typing from forensic material. Biotechniques 1991; 10: 506-413.
  • Gjertson DW, Brenner CH, Baur MP, Carracedo A, Guidet F, Luque JA, et al. ISFG: Recommendations on bistatistics in paternity testing. Forensic Sci. Int. Genetics 2007; 1: 223-231.
  • Ferdous A, Ali ME , Alam S, Hossain T. Hany U, Dissing J, Akhteruzzaman S. Genetic data on 10 autosomal STR loci in the Bangladeshi Population. Legal Medicine 2006; 8: 297-299.
  • Ferdous A, Ali ME, Alam S, Hasan M, Hossain T, Akhteruzzaman S, Forensic Evaluation of STR data for the PowerPlex 16 system loci in a Bangladeshi population. Legal Medicine (In Press).
  • Weber JL, Wong C. Mutation of human short tandem repeats. Hum Mol Genet. 1993; 2(8):1123-8.
  • Brinkmann B, Klintschar M, Neuhuber F, Huhne J, Rolf B. Mutation rate in huaman microsatellites: Influence of the structure and length of the tandem repeat. Am J Hum Genet 1993; 62: 1408-1415.
  • Mills KA, Even D, Murray JC. Tetranucleotide repeat polymorphism at the human alpha fibrinogen locus (FGA). Human Molecular Genetics 1992; 1(9): 779.
  • Bowcock A, Osborne-Lawrence S, Barnes R, Chakravarti A, Washington S, Dunn C. Microsatellite polymorphism linkage map of human chromosome 13q. Genomics 1993;15(2):376-86.

Abstract Views: 291

PDF Views: 0




  • Mutation in Paternally Transmitted Alleles at FGA Microsatelite Locus: a Case of Allele Mismatch in the Child

Abstract Views: 291  |  PDF Views: 0

Authors

Eunus Ali
National Forensic DNA Profiling Laboratory, Dhaka Medical College, Bangladesh, Bangladesh
Shafiul Alam
National Forensic DNA Profiling Laboratory, Dhaka Medical College, Bangladesh, Bangladesh
Ahmad Ferdous
National Forensic DNA Profiling Laboratory, Dhaka Medical College, Bangladesh, Bangladesh
Mahamud Hasan
National Forensic DNA Profiling Laboratory, Dhaka Medical College, Bangladesh, Bangladesh
Tania Hossain
National Forensic DNA Profiling Laboratory, Dhaka Medical College, Bangladesh, Bangladesh
Sharif Akhteruzzaman
Department of Biochemistry & Molecular Biology, University of Dhaka, Bangladesh, Bangladesh

Abstract


We investigated a case of paternity dispute with 10 autosomal STR loci and found a mismatch in one of the alleles of the FGA locus in the child. The composition of alleles of this locus in the mother, child and alleged father were, 19/24, 23/ 24 and 22/24 respectively. The combined paternity index (CPI) and probability of paternity (W) after including the mutation in the calculation was 2,932 and 0.9998 respectively which favored the paternity of alleged father as the biological father of the child. Inclusion of more loci in the analysis provided even stronger evidence in favor of paternity (CPI = 24,013, W = 0.99997). Further analysis using 16 Y-chromosome STR loci, revealed matching of all Y-chromosome alleles of the child with that of the alleged father. Since there was a perfect match of all the paternal alleles inherited (autosomal and Y-chromosomal STRs) in the child with those of the alleged father except the allele at FGA, it might therefore be a case of mutation. The results suggest that, either there was expansion of a complete repeat of the paternal allele 22 or a loss of a complete repeat from paternal allele 24 which was transmitted as allele 23 in the child.

Keywords


Allele, Genotype, Locus, Microsatellites, PCR, Mutation

References