Microsatellite mutation in the maternally/paternally transmitted D18S51 locus: two cases of allele mismatch in the child.

  title={Microsatellite mutation in the maternally/paternally transmitted D18S51 locus: two cases of allele mismatch in the child.},
  author={Venkanna Narkuti and Ravi N Vellanki and K P C Gandhi and Kiran Kumar Doddapaneni and Pramila D Yelavarthi and Lakshmi Narasu Mangamoori},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  volume={381 2},
Paternal exclusion: allele sharing in microsatellite testing
Investigations on inconclusive paternity due to atypical allele sharing in autosomal microsatellites were resolved with X- and Y-chromosome STR analyses confirming the case as non-paternity.
De novo deletion at D13S317 locus: a case of paternal-child allele mismatch identified by microsatellite typing.
Haplotype-assisted characterization of germline mutations at short tandem repeat loci
In this study, 98 families with 101 mutations were analyzed in depth in which a mutation had been observed at one of the four loci D3S1358, FGA, ACTBP2, and VWA and it was possible to identify the mutated structure and/or mutation event in the vast majority of cases.
Triploidy—Observations in 154 Diandric Cases
The results of this study combined with data from previous prospective studies estimate the risk of GTN after a triploid mole to 0% (95% CI: 0–1,4%).


Multistep microsatellite mutation in the maternally transmitted locus D13S317: a case of maternal allele mismatch in the child
The sequence of two hypervariable regions of mitochondrial DNA, HV1 and HV2 and the maternal alleles of six X chromosome STR loci in the questioned child matched completely with the mother.
Mutation in the STR locus D21S1 1 of father causing allele mismatch in the child.
A case of paternity dispute with 15 autosomal STR loci and found a mismatch in one of the alleles of the locus D21S11 in the child suggests that the suspicious father is the biological father of the child.
Segregation analysis of tetra‐ and pentanucleotide short tandem repeat polymorphisms: Deviation from Mendelian expectations
An extensive analysis of segregation in nuclear families of a normal population for the same loci revealed specific mating types are apparently responsible for most of these abnormal segregations, suggesting selective factors working either at the gametic or zygotic levels.
Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat.
The data demonstrate that mutation rates of different loci can differ by several orders of magnitude and that different alleles at one locus exhibit different mutation rates.
Haplotype studies support slippage as the mechanism of germline mutations in short tandem repeats
Paternity cases for which more than the usual trio were available for testing and four mutations were observed at different loci, support slippage as the mechanism of germline mutations in STRs.
Genetics and Genomics of Core Short Tandem Repeat Loci Used in Human Identity Testing
  • J. Butler
  • Biology
    Journal of forensic sciences
  • 2006
The physical location of each STR locus in the human genome is delineated and allele ranges and variants observed in human populations are summarized as are mutation rates observed from parentage testing.
Short tandem repeat-based identification of individuals and parents.
Estimation of short tandem repeat (STR) multilocus genotype frequencies for the identification of individuals and estimation of allele frequencies for parentage assignment both depend on (a) testing
Y‐chromosome and mitochondrial DNA polymorphisms in Indian populations
Y‐chromosome polymorphism using short tandem repeat (STR) markers on 94 normal males belonging to the Brahmin and Kamma caste populations of Andhra Pradesh, India, and Siddis, a migrant population