PCR amplification and sequencing of whole blood DNA from an individual with hereditary spastic paraplegia, as well as family members, revealed a fragment of proteolipid protein 1 (PLP1) gene exon 1, which excluded the possibility of isomer 1 expression for this family. The fragment sequence of exon 3 and exon 5 was consistent with the proteolipid protein 1 sequence at NCBI. In the proband sampl...

dna polymorphism within diacylglycerol transferase 2 (dgat2) / monoacyl glycerol transferases 2 (mogat2), leptin and butyrophilin genes were analysed using pcr-sscp in murrah buffalo. the single strand conformation polymorphism (sscp) analysis of amplified gene fragment in exon 5 of mogat2, exon 3 of leptin and intron 1 of butyrophilin gene revealed different patterns. a, b and c showed the fol...

the purpose of the study was to detect the alui and ddei polymorphisms within pou1f1 gene exon 6 and 3'utr region in turkish sheep breeds, and their association with milk productive traits. jugular blood samples were collected from 50 sakiz, 50 white karaman, and 50 awassi sheep using edta as an anticoagulant. pcr-rflp and sequencing analysis were performed to investigate possible polymorphisms...

Background: Patients with diabetes mellitus type II suffer from hyperglycemia because they are not able to use the insulin that they produce, often due to inadequate function of insulin receptors. There are some evidences that this deficiency is inherited in a dominant autosomal manner and leads to the malfunction of the pancreatic beta cells resulting in insulin excretion disorders. In this st...

diacylglycerol acyltransferase1 (dgat1) is a key enzyme in synthesis of triglycerides. a transition mutation resulting substitution of guanine by adenine in dgat1 gene and substitution of lysine by alanine in diacylglycerol-acyltransferase enzyme in cattle has a major effect on milk yield and milk composition traits. in this research, the polymorphism of the region spanning exon 3 to exon 17 of...

Background: This study aimed to assess the frequency determination of c.1115_1118delTTGG and c.3788_3790delTCT Fanconi's anemia A gene (FANCA) gene mutation in the North of Khyber Pakhtunkhwa (KPK) Pakistan Fanconi’s Anemia Population. Materials and Methods: A cross-sectional study was conducted at Khyber Medical University, Peshawar, Pakistan. For the Exon 13 mutation c.1115_1118delTTGG, the ...

Background: Cystic fibrosis (CF) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the CFTR gene in two Iranian families with CF. Methods: After DNA extractio...

Chymosin (Rennin EC 3.4.23.4), an aspartyl proteinase, is the major proteolytic enzyme in the fourthstomach of the unweaned calf, and it is formed by proteolytic activation of its zymogene, prochymosin.Following the cloning of synthesized cDNAs on mRNA pools extracted from the mucosa of the calf fourthstomach, we have identified an alternatively spliced form of preprochymosin ...

Cystic fibrosis (CF) is a common recessive genetic disease caused by mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. More than 1800 different mutations have been described to date. Here, we report 3 novel mutations in CFTR in 3 Italian CF patients. To detect and identify 36 frequent mutations in Caucasians, we used the INNO-LiPA CFTR19 ...