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Genotyping for family coded PKH2 was performed by PCR amplifying two closely linked microsatellite markers each for CYP1B1 and LTBP2 with fluorescently labelled primers and the products were resolved by capillary electrophoresis on an ABI 3730 instrument.
The affected individuals were also checked for homozygosity for alleles of LTBP2-associated short tandem repeat markers, D14S43 and D14S999, and the results similarly excluded linkage to LTBP2 as well.
In addition, the expression of 7 cytokines genes (IL-22, VEGFA, IL26, CXCL14, BMPER, IL-17D, and CCL20) and 16 receptor genes (IL-22RA1, CXCR3, IL-17RC, IL-1RAPL2, IFITM5, NRG2, TNFRSF14, LEPREL2, IL-11RA, LTBP2, ILDR1, IL-17RD, MC1R, IL-22RA2, LEPREL1, and LILRA5) were significantly downregulated by 3.6- to 5.7-fold and 2.14- to 9.12-fold, respectively with p < 0.01 and fold [greater than or equal to] 2 (Figures 4 and 5).
Up till now four loci have been mapped (GLC3A GLC3B GLC3C GLC3D) and two genes (CYP1B1 LTBP2) have been identified for primary congenital glaucoma.56 Samples from patients in families with linkage to GLC3A have mutations in CYP1B1.78 In highly inbred populations like Slovakian Gypsies Iranians and Saudi Arabians; 80-100% prevalence of recessively inherited glaucoma is reported to be due to mutations in CYP1B1.
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