Linkage and linkage disequilibrium analysis of X-STRs in Italian families

Inturri, S.; Menegon, Silvia; Amoroso, Antonio; Torre, Carlo; Robino, Carlo

doi:10.1016/j.fsigen.2010.10.012

Cited by 37 publications

(34 citation statements)

References 10 publications

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“…However, significant differences were observed in all eight loci between the present data and those of Germans [13]. A comparison of allelic distribution of DXS10074 in our Japanese population with that in German, Hungarian, Finnish, Swedish, Italian, Ghanaian, and Somali populations [7,13,19,20] revealed a characteristic difference: the distribution in the European populations was bimodal. The highest frequencies occurred at alleles 8 and 16, 17, and 18.…”

Section: Resultscontrasting

confidence: 56%

“…The trio STR clusters of DXS6801-DXS6809-DXS6789, DXS10079-DXS10074-1DXS10075, DXS10146-DXS10134-DXS10147, DXS10148-DXS10135-DXS8378, and DXS10103-HPRTB-DXS10101 have been proposed as haplotypes [1][2][3][4]6]. These STRs were studied further in other populations [7][8][9]. Although no linkage disequilibrium has been shown in recent studies [7,21], linkage disequilibrium among these loci should also be investigated in even less-differentiated populations than those addressed hitherto.…”

Section: Linkage Equilibrium Analysismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Population genetic study of six closely linked groups of X-STRs in a Japanese population

2011

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X chromosome STR (X-STR) polymorphisms are a useful tool in the fields of human population genetics and personal identification and are quite informative in the investigation of complex kinship or deficiency cases, especially where it is necessary to determine relationships with second-generation offspring in which the same X chromosome may have been inherited. We investigated eight X-STR systems using the Mentype Argus X-8 kit and further developed decaplex PCR for the DXS10148, DXS10161, DXS10160, DXS10159, DXS10079, DXS10075, DXS6799, DXS10102, DXS10106, and DXS10146 loci with the aim of constructing closely linked groups on the X chromosome. The studied population comprised 569 Japanese individuals (390 males and 179 females). Heterozygosity among the present 18 X-STRs showed a distribution of from 54.2% to 90.5%. We constructed six closely linked groups, each comprising three to five X-STRs: DXS10148-DXS10135-DXS8378, DXS10161-DXS10160-DXS10159, DXS7132-DXS10079-DXS10074-DXS10075-DXS981, DXS6809-DXS6789-DXS6799, DXS10102-HPRTB-DXS10101-DXS10106, and DXS8377-DXS10146-DXS10134-DXS7423. The forensic utility of these groups as haplotypes was then evaluated. Haplotype diversity values showed a distribution of from 0.9699 to 0.9959. Analysis of the present closely linked haplotypes will contribute to solving complex kinship cases involving X chromosome inheritance.

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Section: Resultscontrasting

confidence: 56%

Section: Linkage Equilibrium Analysismentioning

confidence: 99%

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Population genetic study of six closely linked groups of X-STRs in a Japanese population

2011

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“…These features suggest that allelic distribution of many X-STRs in the Malay population differs from that in East Asian, European, and African populations. Allelic distribution of DXS10074 in the European population was bimodal, with the highest frequencies at alleles 8, 16, and 17 or 18 [8,[17][18][19].A peak at allele 8 was also found in African populations [17,19], but has not been reported in East Asian populations [6,11,12,20]. This group of alleles was observed in the Malay population at a frequency of 2.65 % (11 individuals), suggesting that this is yet another group not derived from East Asia that is contained in the Malay X chromosome.…”

Section: Resultsmentioning

confidence: 95%

“…The human X chromosome has been the focus of much research in the fields of population genetics and forensics in recent years, and closely linked groups of markers are becoming more attractive [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15]. X-chromosomal short tandem repeats (X-STRs) can be used to complement autosomal STRs in paternity testing in female children.…”

Section: Introductionmentioning

confidence: 99%

Genetic study of 12 X-STRs in Malay population living in and around Kuala Lumpur using Investigator Argus X-12 kit

et al. 2012

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We investigated 12 X-chromosomal short tandem repeat (STR) polymorphisms in 283 unrelated Malay individuals (160 males and 123 females) living in and around Kuala Lumpur using the Investigator Argus X-12 kit. Heterozygosity among the present 12 X-STRs showed a distribution of from 55.3 to 93.5 %. The diversity values of the haplotypes constructed using four closely linked groups were all higher than 0.9865. A comparison of allelic frequency in each system and haplotype variation indicated that the nature of these X-STRs in the Malay population differed from that in East Asian, European, or African populations. Several microvariant alleles found in the Malay population were characterized and compared with known sequence data. The present data may be helpful in forensic casework such as personal identification and kinship testing in the Malay population in Malaysia.

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X chromosomal recombination—A family study analyzing 26 X‐STR Loci in Chinese Han three‐generation pedigrees

Liu

et al. 2013

Electrophoresis

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The aim of this study is to investigate genetic linkage and recombination fractions of 26 X chromosomal (X-STR) loci with two multiplex PCR systems (MX15-STR and MX12-STR). MX15-STR (including DXS7133, DXS6801, DXS981, DXS6809, DXS7424, DXS6789, DXS9898, DXS7132, GATA165B12, DXS101, DXS10075, DXS6800, GATA31E08, DXS10074, and DXS10079) and MX12-STR (including DXS6854, DXS9902, DXS6800, GATA172D05, DXS7423, HPRTB, DXS6807, DXS6803, DXS6804, DXS6799, DXS8378, and DXS8377) were successful analyzed on 206 two-generation families with two or more children and 33 three-generation families with 72 grandsons. Segregation analysis and calculation of recombination fractions between pairs of markers were performed. Linkage analysis of pairs of markers showed that there existed significant linkage (maximum LOD scores >2.0) within the physical distance of 48.5 Mb. Recombination events could be observed within the clusters of closed linked makers spanning <1.0 Mb. These results indicate that close cluster X-STRs used and recombination fractions of the selected loci will be very useful for biostatistical calculations in complex kinship analysis.

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Linkage and linkage disequilibrium analysis of X-STRs in Italian families

Cited by 37 publications

References 10 publications

Population genetic study of six closely linked groups of X-STRs in a Japanese population

Population genetic study of six closely linked groups of X-STRs in a Japanese population

Genetic study of 12 X-STRs in Malay population living in and around Kuala Lumpur using Investigator Argus X-12 kit

X chromosomal recombination—A family study analyzing 26 X‐STR Loci in Chinese Han three‐generation pedigrees

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