Validation of PHASE for deriving N-acetyltransferase 2 haplotypes in the Western Cape mixed ancestry population.

ABSTRACT:

Background

There is a shortage of data on the accuracy of statistical methods for the prediction of N-acetyltransferase 2 (NAT2) haplotypes in the mixed ancestry population of the Western Cape.

Objective

This study aimed to identify the NAT2 haplotypes and assess the accuracy of PHASE version 2.1.1 in assigning NAT2 haplotypes to a mixed ancestry population from the Western Cape.

Methods

This study was conducted between 2013 and 2016. The NAT2 gene was amplified and sequenced from the DNA of 100 self-identified mixed ancestry participants. Haplotyping was performed by molecular and computational techniques. Agreement was assessed between the two techniques.

Results

Haplotypes were assigned to 93 samples, of which 67 (72%) were ambigu

SUBMITTER: Swart C 

PROVIDER: S-EPMC7756977 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature