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Haplotype analysis revealed that Sardinian mutation carriers shared majority of allele markers with only one of the two Jewish-Yemenite families; the remaining Jewish-Yemenite family and the French-Canadian families did not present the same genotypic asset (see Table 1).
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However, using the rearrangement barcodes, even Patient 10, a germline BRCA1 mutation carrier, shared very few rearrangements between BC1 and BC2 and a different clonal origin could be determined (Additional files 3 and 4).
All known affected MLH1-mutation carriers share the same haplotype, as well as the affected obligate carriers.
The mutation carrier families shared a common haplotype indicating a founder effect for the mutations.
The pricing for the carriers' shared plans is nearly identical.
The 5382insC mutation is observed in many populations, and the vast majority of carriers share the same core haplotype (Szabo C, personal communication).
We then genotyped four polymorphic microsatellite markers (D16S403, D16S481, and D16S3130 proximal to PALB2, and D16S417 distal to PALB2) and found that mutation carriers from the three families share a common allele at each locus.
Consistently, our haplotype analysis carried out in six Italian families with the IVS16-2A>G BRCallowedthen allowedetectionectiof of a common haplotype shared by all mutation carriers.
For both MSH2 and BRCA2, we identified a common haplotype shared by all mutation carriers, consistent with the inferred common ancestry.
The analysis carried out in family 25, carrying the 9106C>T BRCA2 mutation, allowed the identification of a common haplotype (5-6-2-6-6) shared by all mutation carriers belonging to this family.
It can be hypothesized that the common haplotype shared by all mutation carriers could be comprised within a region starting from the 3' end of the gene and extending to the 5' flanking microsatellite markers.
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