Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...

in this study, we report a mutation in cybb gene in a patient with x-cgd (diagnosed on the base of family history, ndt test, dhr 123 assay). mutation in cybb gene was detected using sscp analysis (single-strand conformation polymorphism) followed by sequencing. during screening for mutations in the cybb gene we observed 880 c t in exon 8. this mutation resulted in 290 arg stop. we also observed...

insulin-like growth factor-i (igf-1) is a peptide hormone which is similar in molecular structure to insulin and it is located on chromosome 5 in cattle. since the igf-1 plays an important role in the growth and development of multiple tissues, the purpose of current study was to identify the igf-1 gene polymorphism in sistani beef cattle. a total of 53 sistani beef cattle (one year) were rando...

background: some dynamic changes occurs during spermatogenesis such as histone removal and its replacement with transition nuclear protein and protamine. these proteins are required for packing and condensation of sperm chromatin. jhdm2a is a histone demethylase that directly binds to promoter regions of tnp1 and prm1 genes and controls their expression by removing h3k9 at their promoters.objec...

The bovine leptin (LEP) gene was widely used as a candidate gene for molecular selection to improve productivity traits of cattle. This study was carried out to identify single nucleotide polymorphisms (SNPs) in the LEP gene of Sumba Ongole (SO, Bos indicus) cows using sequencing method. A total of 31 animals were used in this study for analyses. Research showed that total of 16 SNPs w...

Abstract. Hatta ANNL, Sukma D, Maskromo I, Sudarsono S. 2023. Validated SNAP markers based on the CYP P450 87 A3 gene in coconut (Cocos nucifera) are associated with yearly stem height increase. Biodiversitas 24: 2503-2512. Tall and dwarf coconuts types used worldwide as parents hybrid production, they differ their height. The of is estimated 11 leaf scars length. essential stem-height increase...

The ubiquitously expressed hypoxia-inducible factor-1 (HIF-1) is involved in expression of a large number of oxygen-regulated genes. HIF-1 is a heterodimer consisting of an alpha and a beta subunit, both belonging to the basic-helix-loop-helix Per-aryl hydrocarbon receptor nuclear translocator-Sim (PAS) family of transcription factors. Whereas HIF-1alpha is a novel member of this family, HIF-1b...

MeduIIary thyroid carcinoma (MTC) occurs both sporadically and in the autosomal dominantly inherited multiple endocrine neoplasia (MEN) type 2 syndromes. The distinction between true sporadic MTC and a new mutation familial case is important for future clinical management of both the patient and family. The susceptibility gene for hereditary MTC is the RET proto-oncogene. DNA analysis for g...

BACKGROUND Type-I interferons, type-II interferons, and the IL-10 family are helical cytokines with similar three-dimensional folds. However, their homologous relationship is difficult to detect on the basis of sequence alone. We have previously described the discovery of the human type-III interferons (IFN lambda-1, -2, -3 or IL-29, IL-28A, IL-28B), which required a combination of manual and c...