TaqMan‐based real‐time polymerase chain reaction for detection of FUT2 copy number variations: identification of novel Alu‐mediated deletion

Abstract

The TaqMan real-time PCR method was able to detect the number of copies of FUT2 and distinguish different kinds of known CNVs. This system is robust, fast, and suitable for high-throughput analysis.

Genetic variation of FUT2 in a Vietnamese population: identification of two novel Se enzyme–inactivating mutations

“…20 We also examined four known CNVs by conventional PCR using three sets of primers, as described previously. 6,8,15,20…”

Genetic variation of FUT2 in a Peruvian population: identification of a novel LTR‐mediated deletion and characterization of 4 nonsynonymous single‐nucleotide polymorphisms

“…In fact, we found three se alleles (se del , se del2 , and se del3 ) with complete deletions of the FUT2 coding region generated by distinct Alu‐mediated recombination events (see Fig. A) . The se del with a deletion of about 10 kb seems to be specific for South Asians, and the se del2 with a deletion of about 9.3 kb was found in Polynesians and admixed New Guineans .…”

“…Peruvian genomic DNAs (MGP00011, 1000 Genomes project ‐ panel of 70 Peruvians in Lima, Peru) were purchased from the Coriell Institute for Medical Research. Genomic DNA of heterozygotes of se fus ( Se / se fus ), se del3 ( Se / se del3 ), and homozygotes of Se used as controls for conventional and digital polymerase chain reaction (PCR) were isolated as described previously …”

“…The se del with a deletion of about 10 kb seems to be specific for South Asians, and the se del2 with a deletion of about 9.3 kb was found in Polynesians and admixed New Guineans . On the other hand, the se del3 with a deletion of about 4 kb was found in one Chinese individual so far …”

ABO, H, and Lewis Systems

“…This phenotype results from homozygosity for an inactivating missense mutation in FUT1 (Leu242Arg) together the se del allele of FUT2 [92,93] . The se del3 allele was found in one Chinese [98] . Another FUT2 deletion, se del2 , has a frequency of 10.4% in Samoans [94] .…”