Regions of homozygosity
identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships.
The levels of HLA-B27 homozygosity
were not significantly different to the general population (p=0.
may not be consistent across this region of chromosome 18.
Scientists might be able to control the lingering cancer risk from homozygosity
by simply checking whether any newly created stem cells have matching copies of known cancer-related genes.
Comparably high proportions (97 to 100 percent) of seven Chinese aboriginal populations possessed at least one ADH1C*1 allele, although the rates of homozygosity
for ADH1C*1 were more variable (59 to 99 percent) in these populations (Chen et al.
Genotype analysis for the two children demonstrated homozygosity
In humans, sickle cell anemia is a life-threatening disease based upon the homozygosity
of an altered hemoglobin allele.
They also identify long contiguous stretches of homozygosity
, which may suggest an increased likelihood for a recessive condition or uniparental disomy (UPD).
Population genetic indices, including gene homozygosity
(Ho), gene heterozygosity (He), effective allele numbers (Ne), and polymorphism information content (PIC) were calculated according to Nei and Roychoudhury (Nei and Roychoudhury, 1974).
In four families, confirmation of the clinical diagnosis was requested, where some of the clinical features were not entirely consistent with homozygosity
for sickle cell anaemia.
Meta-analysis of 18 genetic association studies indicated that intron 4a allele, homozygosity
for intron 4a of eNOS a/b are positively associated with preeclampsia (8).
Gene sequencing revealed homozygosity
for a novel c760C>T (Pro254Ser) mutation in the MTHFR gene.