Analysing two dinucleotide repeats of FVIII gene in Iranian population

Rabbani, Bahareh; Rezaeian, Abdol Hossein; Khanahmad, Hossein; Bagheri, Rezvan; Kamali, Esmat; Zeinali, Sirous

doi:10.1111/j.1365-2516.2007.01471.x

Cited by 4 publications

(4 citation statements)

References 15 publications

(23 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The risk of recombination of the external markers limits the use of RFLP in tracking the defective allele. Additional informative intragenic markers, such as STR increase the accuracy of analysis (33). Furthermore, Dai et al (34) observed the HR of 21.57% for G6PD and 35.29% for DXS1108 in Chinese population, which was consistent with previous report (35).…”

Section: Discussionsupporting

confidence: 79%

Evaluation of factor VIII polymorphic short tandem repeat markers in linkage analysis for carrier diagnosis of hemophilia A

Sabina

Dong

et al. 2016

Biomedical Reports

View full text Add to dashboard Cite

Abstract. Hemophilia A (HA) is the most common inherited X-linked recessive bleeding disorder caused by heterogeneous mutations in the factor VIII gene (FVIII). Diagnosis of the carrier is critical for preventing the birth of children affected by this coagulation disorder, which ultimately facilitates its management. Due to the heterogeneous nature of mutations, the large inversions and the complexity of the FVIII gene, direct recognition of the disease-associated mutation in HA is complex. Indirect linkage analysis using highly informative heterozygous polymorphic markers is an alternative method for determining the co-segregation of the mutant gene within a family for carrier detection of HA. The aim of the present study was to perform carrier diagnosis in a family with HA. Rapid multifluorescent polymerase chain reaction (PCR) was performed with six extragenic short tandem repeats (STRs), DXS1073, DXS15, DXS8091, DXS1227, DXS991, DXS993 and one intragenic marker, STR22 for linkage analysis in the HA family. All the STR markers employed in the present study were informative for linkages of pathogenic and healthy haplotypes among family members, particularly STR22, DXS1073 and DXS15. The STR marker, STR22, is within the FVIII gene while the DXS1073 and DXS15 markers are very close to the FVIII gene, where the chances of recombination are comparatively low, and provided the most accurate interpretation analysis, indicating that the proband's sister may have been the HA carrier. Rapid multifluorescent PCR using STR markers and linkage analysis was identified to be a simple method for performing HA carrier diagnosis.

show abstract

Section: Discussionsupporting

confidence: 79%

Evaluation of factor VIII polymorphic short tandem repeat markers in linkage analysis for carrier diagnosis of hemophilia A

Sabina

Dong

et al. 2016

Biomedical Reports

View full text Add to dashboard Cite

show abstract

“…The polymorphic nature of the STR loci was validated using a comparative genomic approach centred on the interval of interest, essentially as reported for the wide-genome STR map [15]. Briefly, STR sequences in the three human X chromosome reference sequences were aligned using [32], 46 [31], 50 [41], 52 [33], 53 [22], 53 [19], 54 [34] 56 [35], 60 [36], {62-82} à [37], 69 [38], 72 [24], 71 [39], 79 [40], 83 [27], 91 [7] F8Int22 GT 40 [36], 43 [19], 43 [31], 44 [32], 45 [9], 44 [34], 49 [41], 50 [35], {54-70} à [37], 57 [38], 59 [33], 62 [24], 68 [40], 71 [39], 79 [36] Previously reported as F8Int24 [19]; reassigned in this work to the third STR element in Int25 of the F8 gene and recently validated in vitro [20].…”

Section: In Silico Validation Of Polymorphismmentioning

confidence: 99%

High‐resolution combined linkage physical map of short tandem repeat loci on human chromosome band Xq28 for indirect haemophilia A carrier detection

Machado

Medina‐Acosta

2009

Haemophilia

View full text Add to dashboard Cite

Haemophilia A, the most common severe hereditary bleeding disorder in humans, is chiefly caused by mutations in the coagulation factor VIII F8 gene, which maps on chromosome band Xq28. Linkage analysis with F8 intragenic and/or closely located extragenic short tandem repeat (STR) elements is an effective method for indirect tracing of F8 pathogenic allelic variants in at-risk families. STR profiling is currently limited to 14 markers, 11 of which are dinucleotide elements. The aim of this study was to define novel polymorphic STR loci for haemophilia A carrier screening. The combined linkage physical map was restricted to a 2.4-Mb region on Xq28 that hosts 81 annotated genes, F8 inclusive. The inventory was in silico through comparative analyses with three X chromosome reference sequences, using microsatellite mining and validation computer software. Genetic distances for unmapped markers were interpolated on the Rutgers map of the human genome. The effort yielded 94 STR loci: 53 extragenic and 41 intragenic (14 STR elements map on the F8 gene; the other 27 on 19 further genes). The distribution per repeat period size was 61.7% di-, 5.3% tri-, 26.6% tetra- and 6.4% pentanucleotide loci. The success rate of validation of polymorphism for the new STR loci was 56.3%. For STR elements 0.78 Mb equidistant of the F8 gene, the interpolated downstream genetic length is 3.27 times the upstream genetic length. The inventory represents a 5.7-fold increase in polymorphic STR loci useful in carrier detection. Genotyping with the upstream extragenic tetra- and pentanucleotide markers is thus apprized.

show abstract

“…The risks of recombination of the external markers limit the use of restriction fragment length polymorphisms in tracking the defective allele. Additional informative intragenic markers such as short tandem repeats (STRs) in DNA would thus increase the accuracy of analyses [9].…”

Section: Introductionmentioning

confidence: 99%

“…Additional informative intragenic markers such as short tandem repeats (STRs) in DNA would thus increase the accuracy of analyses [9].…”

Section: Introductionmentioning

confidence: 99%

Analysis of five polymorphic DNA markers for indirect genetic diagnosis of haemophilia A in the Brazilian population

Massaro¹,

Wiezel²,

Muniz³

et al. 2011

Haemophilia

View full text Add to dashboard Cite

Hemophilia A is an X-linked, inherited, bleeding disorder caused by the partial or total inactivity of the coagulation factor VIII (FVIII). Due to difficulties in the direct recognition of the disease-associated mutation in the F8 gene, indirect diagnosis using polymorphic markers located inside or close to the gene is used as an alternative for determining the segregation of the mutant gene within families and thus for detecting carrier individuals and/or assisting in prenatal diagnosis. This study characterizes the allelic and haplotype frequencies, genetic diversity, population differentiation and linkage disequilibrium of five microsatellites (F8Int1, F8Int13, F8Int22, F8Int25.3 and IKBKG) in samples of healthy individuals from São Paulo, Rio Grande do Sul and Pernambuco and of patients from São Paulo with haemophilia A to determine the degree of informativeness of these microsatellites for diagnostic purposes. The interpopulational diversity parameters highlight the differences among the analyzed population samples. Regional differences in allelic frequencies must be taken into account when conducting indirect diagnosis of haemophilia A. With the exception of IKBKG, all of the microsatellites presented high heterozygosity levels. Using the markers described, diagnosis was possible in 10 of 11 families. The F8Int22, F8Int1, F8Int13, F8Int25.3 and IKBKG microsatellites were informative in seven, six, five and two of the cases, respectively, demonstrating the effectiveness of using these microsatellites in prenatal diagnosis and in carrier identification in the Brazilian population.

show abstract

Analysing two dinucleotide repeats of FVIII gene in Iranian population

Cited by 4 publications

References 15 publications

Evaluation of factor VIII polymorphic short tandem repeat markers in linkage analysis for carrier diagnosis of hemophilia A

Evaluation of factor VIII polymorphic short tandem repeat markers in linkage analysis for carrier diagnosis of hemophilia A

High‐resolution combined linkage physical map of short tandem repeat loci on human chromosome band Xq28 for indirect haemophilia A carrier detection

Analysis of five polymorphic DNA markers for indirect genetic diagnosis of haemophilia A in the Brazilian population

Contact Info

Product

Resources

About