Runs of homozygosity
and population history in cattle.
HomozygosityMapper - An interactive approach to homozygosity
These analyses revealed that simultaneously maternal homozygosity
in 1G/1G MMP1 and 5A/5A MMP3 increases the risk of pre-eclampsia development over 10-fold (OR =10.22, 95% CI 2.28-45.8; p < 0.01).
at CRB1 locus (1q31.1) with four amplified markers (D1S2816, D1S2840, D1S2816 and D1S1660) shown a clear homozygous pattern for all affected and heterozygous against controlled members which confirmed it as a diseased locus.
Comparison of homozygous samples by NGS and an alternate method demonstrated a high degree of concordance and confirmation of homozygosity
. In addition, when evaluating 1893 samples for homozygosity
, CHOP found 2 cases of false homozygous typing by NGS when compared with an alternate method, one each for HLA-DRB1 and DQB1.
Sequence analysis carried out in an affected SA boy from a consanguineous Venda family revealed homozygosity
for a single nucleotide insertion in exon 5, which resulted in a frame shift and premature stop codon p.(Gly278Argfs*95).
mapping analysis of samples derived from three affected individuals (IV-3, IV-6, and IV-7) identified 6 different disease-associated loci (Table 2 and Figure 1(c)).
Although sequencing analysis cannot exclude a large heterozygous deletion in the CYP11B2 gene in trans to c.1398+2T>A (i.e., hemizygosity), homozygosity
of c.1398+2T>A is most likely.
Green, "Polycythaemia associated with homozygosity
for the abnormal haemoglobin Sherwood Forest ([beta]104(G6) Arg [right arrow] Thr)," British Journal of Haematology, vol.
mapping on four family members (unaffected parents and the two affected siblings) was performed using 300K single-nucleotide polymorphism (SNP) microarray (HumanCytoSNP12.2 chip) along with iScan platform (Illumina, USA).
Among their topics are allopolyploidy and interspecific hybridization for wheat improvement, polyploidy in maize: the impact of homozygosity
and hybridity on phenotype, broadening the genetic basis for crop improvement: interspecific hybridization within and between ploidy levels in Helianthus, oat improvement and innovation using wild genetic resources (Poaceas, Avena spp.): elevating "oats" to a new level and stature, and interspecific hybridization for chickpea (Cicer arietinum L.) ([umlaut] Ringgold, Inc., Portland, OR)
Until now, there are few reports showing homozygosity
for Robertsonian translocations which are summarized in table 1.