Skip to main content
Fig. 3 | Human Genomics

Fig. 3

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

Fig. 3

Haplotype and linkage analysis for families with autosomal recessive disorders. Hypothetical families in which A, B, C a sibling of the pregnant woman is a patient and D, E, F a previously born child is a patient. In both cases, the pregnant women are heterozygous carriers of the pathogenic mutation. Different conditions show how the haplotype and linkage analysis can be used to identify the affected haplotype linked to the pathogenic mutation. A Both grandparents are heterozygous for selected SNPs; B GM is homozygous and GF is heterozygous for selected SNPs; C GF is homozygous and GM is heterozygous for selected SNPs; D Both parents are heterozygous for selected SNPs; E the mother is heterozygous and the father is homozygous for selected SNPs; F the father is heterozygous and the mother is homozygous for selected SNPs

Back to article page

Human Genomics

ISSN: 1479-7364