METHODS: This was a cross-sectional observational study. From 2013 to 2014, we recruited inhabitants aged 50 years or older in Guangzhou, China. Among 1,117 participants in the study, data from 1,015 phakic right eyes were used for analyses. Ocular parameters including axial length (AL), anterior chamber depth (ACD), and corneal curvature (K) were measured using an IOL Master.
RESULTS: The mean AL, ACD, and K were 23.48 mm [95 % confidence interval (CI), 23.40-23.55], 3.03 mm (CI, 3.01-3.05), and 44.20 mm (CI, 44.11-44.29), respectively. A mean reduction in ACD with age was observed (P = 0.002) in male subjects but not in female subjects (P = 0.558). Male subjects had significantly longer ALs (23.68 mm versus 23.23 mm, P
SETTING: Haematology Lab, Department of Biomedical Science, University of Malaya.
PARTICIPANTS: Eight couples characterised as β-thalassaemia carriers where both partners posed the same β-globin gene mutations at CD41/42, IVS1-5 and IVS2-654, were recruited in this study.
OUTCOME MEASURES: Genotyping was performed by allele specific-PCR and the locations of SNPs were identified after sequencing alignment.
RESULTS: Genotype analysis revealed that at least one paternal SNP was present for each of the couples. Amplification on free-circulating DNA revealed that the paternal mutant allele of SNP was present in three fcDNA. Thus, the fetuses may be β-thalassaemia carriers or β-thalassaemia major. Paternal wild-type alleles of SNP were present in the remaining five fcDNA samples, thus indicating that the fetal genotypes would not be homozygous mutants.
CONCLUSIONS: This preliminary research demonstrates that paternal allele of SNP can be used as a non-invasive prenatal diagnosis approach for at-risk couples to determine the β-thalassaemia status of the fetus.