Skip to main content
Fig. 5 | Human Genomics

Fig. 5

From: Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders

Fig. 5

A schematic for the diagnosis of autosomal recessive disorders by NIFG. Parental Haplotypes were firstly constructed accordingly to the selected SNPs linked to the mutation. SPRT statistical analysis was then performed to detect allelic imbalance. Based on all the information above, the fetal genotypes could be deduced. SNP I: to detect maternally inherited variants, selected SNPs were heterozygous in mother (A/B) and homozygous in father(A/A);SNP II: to detect paternally inherited variants, selected SNPs were heterozygous in father (A/B) and homozygous in mother (A/A)

Back to article page

Human Genomics

ISSN: 1479-7364