for a Robertsonian Translocation (13q; 14q) in an Otherwise Healthy 44, XY Man With a History of Repeated Fetal Losses.
In Han Chinese adults with normal renal function, the minor allele in VDR rs2228570 was associated with CAD, whereas the major allele homozygosity
in VDR rs2228570 was connected with higher plasma HDL-cholesterol concentrations in CAD patients .
Human leukocyte antigen-DQ2 homozygosity
and the development of refractory celiac disease and enteropathy-associated T-cell lymphoma.
28] Pedigree-based estimates of consanguinity and the resultant levels of homozygosity
have several limitations; in particular, they do not provide information on close-kin marriages that have occurred in distant generations ago and thus underestimate cumulative inbreeding effects, and with rare exceptions incorrectly ascribed paternity are not recorded.
10) In some laboratories the total percentage of homozygosity
across the genome was reported, whereas in other laboratories the frequency of ROH was considered to be important.
reported that JAK2V617F mutation activates granulocytes and mobilizes CD34 cells, and that the transition of JAK2V6I7F from heterozygosity to homozygosity
could play a role in the progression of PV to post-PV myelofibrosis; (9) however, this has not yet been confirmed.
It has been proposed that homozygosity
of a gene is responsible for a pronounced tubercle, whereas, the heterozygote show as slight grooves, pits, tubercles or bulge.
mapping and sorting of genomic regions were performed with dedicated software called AutoSNPa.
Some studies have showed that the Asp variant is more susceptible to inactivation by proteolytic cleavage, possibly due to a tighter turn of the alpha helix, suggesting that homozygosity
for this variant may result in impaired catalytic function of eNOS (25).
Analysis has shown that the genotype of TTaa, conditioned by homozygosity
for the T allele of C677T polymorphism and homozygosity
for a allele of a polymorphism in A1298C, increases the risk of NTDs in 3.
Heterozygosity of KL-VS allele was found to have a protective effect against ischemic stroke compared to homozygosity
of the allele.
In fact, homozygosity
of the MTHFR A1298C mutation was found to be protective.