mutations

A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I

N. Wanlapakorn, Nilyanimit, P., Vorawandthanachai, T., Deesudjit, T., Dumrongpisutikul, N., and Poovorawan, Y., “A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I”, vol. 14, pp. 419-425, 2015.

Human uridine 5'-diphosphate-glucuronosyltransferases play a critical role in detoxification by conjugating bilirubin with glucoronic acid. Impaired or reduced enzymatic activity causes a spectrum of clinical disorders such as Crigler-Najjar syndrome type I (CN1), Crigler-Najjar syndrome type II, and Gilbert’s syndrome. CN1 is a severe form of unconjugated hyperbilirubinemia caused by homozygous or compound heterozygous mutations in the gene for uridine 5'-diphosphate glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1), resulting in complete loss of enzyme function.

Low prevalence of glucokinase gene mutations in gestational diabetic patients with good glycemic control

H. R. Frigeri, Santos, I. C. R., Réa, R. R., Almeida, A. C. R., Fadel-Picheth, C. M. T., Pedrosa, F. O., Souza, E. M., Rego, F. G. M., and Picheth, G., “Low prevalence of glucokinase gene mutations in gestational diabetic patients with good glycemic control”, vol. 11, pp. 1433-1441, 2012.

Glucokinase (GCK) plays a key role in glucose homeostasis. Gestational diabetes mellitus increases the risk of gestational complications in pregnant women and fetuses. We screened for mutations in coding and flanking regions of the GCK gene in pregnant women with or without gestational diabetes in a Brazilian population. A sample of 200 pregnant women classified as healthy (control, N = 100) or with gestational diabetes (N = 100) was analyzed for mutations in the GCK gene.

Ovine prion protein genotype frequencies in northwestern China

C. - L. Zhao, Wu, R., Liu, L., Li, F. - D., Zhang, X. - L., Wang, C., Wang, F., Diao, X. - L., Guan, H. - W., Wang, X., and Zhou, L., “Ovine prion protein genotype frequencies in northwestern China”, vol. 11, pp. 1671-1681, 2012.

Anti-scrapie breeding programs have been initiated to screen for scrapie-resistant sheep based on ovine prion protein gene (PRNP) genotypes at codons 136, 154 and 171 in many countries, especially European Union member states. However, investigation of sheep PRNP genotypes is limited in China, despite the large number of sheep breeds. We analyzed 432 sheep of five different breeds from farms in northwestern China, using PCR-single-strand conformational polymorphism analysis (PCR-SSCP); the corresponding haplotypes of different PRNP alleles were cloned.

Co-inheritance of variants/mutations in Malaysian patients with Crohn’s disease

K. H. Chua, Ng, C. C., Hilmi, I., and Goh, K. L., “Co-inheritance of variants/mutations in Malaysian patients with Crohn’s disease”, vol. 11, pp. 3115-3121, 2012.

Crohn’s disease is a chronic, relapsing inflammatory bowel disease; it affects the mucosa and deeper layers of the digestive wall. Two Crohn’s disease patients who carried the JW1 variant and two patients who carried the SNP5 variant were investigated for other co-inherited polymorphisms that could influence Crohn’s disease development. Based on the sequencing results, a homozygous 5ꞌ-UTR-59 G to A variant in exon 1 (SNP6) was observed in a patient who carried SNP5, while a heterozygous SNP6 variant was detected in the other patient who carried SNP5.

Lack of mutations of G4.5 in three families from China with noncompaction of the ventricular myocardium

Q. Liu, Qi, X. F., Ye, F., Yao, J., and Xu, J., “Lack of mutations of G4.5 in three families from China with noncompaction of the ventricular myocardium”, vol. 12, pp. 53-58, 2013.

To find the underlying cause of noncompaction of the ventricular myocardium (NVM), three Chinese families with probands who presented this problem were studied. After the family members were evaluated by echocardiography, the gene G4.5 (taffazin) was scanned by sequencing. Although X-linked inheritance could not be ruled out, NVM were thought to have a vague rule of inheritance in our data from 8 patients and 28 family members. We also did not identify any mutations in G4.5 in all samples.

Sequence analysis of the regulatory region of the TNF-RII gene in Polish Holstein-Friesian cows

A. Stachura, Kaczmarczyk, E., and Bojarojć-Nosowicz, B., “Sequence analysis of the regulatory region of the TNF-RII gene in Polish Holstein-Friesian cows”, vol. 12. pp. 1028-1034, 2013.

Tumor necrosis factor receptor type II (TNF-RII) is a surface glycoprotein that can form a complex with TNF-α and participate in the body's immune response. Functions of TNF-RII are impaired in the pathogenesis of viral diseases. We analyzed sequences in the regulatory region of the TNF-RII gene in cattle. An attempt was also made to identify mutations that would have the greatest effect on the expression of the TNF-RII gene. Selected fragments of the regulatory region of the TNF-RII gene (5'-flanking region, fragments of intron 1 and 3'-UTR) were sequenced and analyzed.

Mutational analysis of genes p14ARF, p15INK4b, p16INK4a, and PTEN in human nervous system tumors

L. O. Almeida, Custódio, A. C., Araújo, J. J., Rey, J. A., Almeida, J. R. W., Santos, M. J., Clara, C. A., and Casartelli, C., “Mutational analysis of genes p14ARF, p15INK4b, p16INK4a, and PTEN in human nervous system tumors”, vol. 7, pp. 451-459, 2008.

The cancer is one of the most common and severe problems in clinical medicine, and nervous system tumors represent about 2% of the types of cancer. The central role of the nervous system in the maintenance of vital activities and the functional consequences of the loss of neurons can explain how severe brain cancers are. The cell cycle is a highly complex process, with a wide number of regulatory proteins involved, and such proteins can suffer alterations that transform normal cells into malignant ones.

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