scholarly journals A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and Werner Mesomelic Syndrome in a Homozygous Form

2014 ◽  
Vol 35 (8) ◽  
pp. 945-948 ◽  
Author(s):  
Julia E. VanderMeer ◽  
Reymundo Lozano ◽  
Miao Sun ◽  
Yuan Xue ◽  
Donna Daentl ◽  
...  
Keyword(s):  
Preaxial Polydactyly ◽  
Heterozygous Form ◽  
Homozygous Form

scholarly journals Association of polymorphism of some candidate genes of lipid and carbohydrate metabolism with anthropometric indices and inflammatory markers in patients with type 2 diabetes mellitus in the population of Azerbaijan

2012 ◽  
Vol 9 (3) ◽  
pp. 26-28
Author(s):  
Z G Akhmedova
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Necrosis Factor Alpha ◽  
Mutant Variant ◽  
Tnf Α ◽  
Heterozygous Form ◽  
High Level ◽  
Homozygous Form

The purpose of the study was to analyze the association of gene polymorphisms of leptin, adiponectin, tumor necrosis factor alpha (TNF-α), insulin-induced gene, and the parameters of carbohydrate and lipid metabolism, level of C-reactive protein (CRP) in patients with type 2 diabetes mellitus (T2DM) with anthropometric data. A total of 95 patients with T2DM of Azerbaijan population. The average age at the time of the survey was 50,4±0,51 years. Duration of the disease was 5,8±1,5 years. We found that patients with T2DM and obesity in the Azerbaijan population have most common polymorphism of insulin-induced gene in the homozygous form (GG), a mutant version of the gene in heterozygous form of leptin, adiponectin gene mutant variant in homozygous form and the normal version of the gene TNF-α in homozygous form. In 47.3% of cases there was a high level of CRP, a linear body mass index with normal homozygous GG allele of the TNF-a gene , insulin-induced gene, and a mutant version of the adiponectin and leptin genes.

scholarly journals Investigation of some endogenous antimicrobial peptides in thalassemia

2018 ◽  
Author(s):  
Arif Mustafa Efendiyev ◽  
Gulnara Ibrahim Azizova ◽  
Arzu Ramiz Dadashova
Keyword(s):  
Antimicrobial Peptides ◽  
Biochemical Parameters ◽  
Mean Corpuscular Volume ◽  
Immune Status ◽  
Alanine Transaminase ◽  
Blood Samples ◽  
The Third ◽  
Heterozygous Form ◽  
Conjugated Bilirubin ◽  
Homozygous Form

The aim of this work was a comparative study of the amount of antimicrobial peptides - human neutrophil peptides - defensins (HNP), hepcidin, bactericidal/permeability-increasing protein (BPI), and endotoxin in β-thalassemia. Blood samples of 135 patients with thalassemia were investigated. All patients were divided into 3 groups. The first group included patients with heterozygous form (n=45). The second group consisted of patients with homozygous form before splenectomy (n=45). The third group included patients with homozygous form after splenectomy (n=45). The age of patients varied from 2 to 18 years. Biochemical [unconjugated and conjugated bilirubin, alkaline phosphatase, hemoglobin, ferritin, aspartate transaminase (AST), alanine transaminase (ALT), mean corpuscular volume (MCV)] and immune (IgA, IgM, IgG, phagocytic activity) parameters were defined. Obtained results suggest that increased levels of endogenous antimicrobial peptides are associated with the development of the infectious process and reflect the dynamics of changes in biochemical parameters and immune status.

scholarly journals FV Leiden, FII G20210A and MTHFR C677T mutations in patients with lower or upper limb deep vein thrombosis

Genetika ◽  
2011 ◽  
Vol 43 (2) ◽  
pp. 371-380 ◽  
Author(s):  
Valentina Djordjevic ◽  
Iva Pruner ◽  
Ljiljana Rakicevic ◽  
Mirjana Kovac ◽  
Danijela Mikovic ◽  
...  
Keyword(s):  
Significant Risk ◽  
Mthfr C677t ◽  
Lower Limbs ◽  
Upper Limbs ◽  
Vein Thrombosis ◽  
C677t Mutation ◽  
Fv Leiden ◽  
Heterozygous Form ◽  
Deep Vein ◽  
Homozygous Form

Deep vein thrombosis (DVT) is a multifactorial disease that occurs with frequency of 1/1000 per year. The FV Leiden, FII G20210A and MTHFR C677T mutations represent genetic factors for the occurrence of vein thrombosis. The goal of this study was to determine the frequency of these mutations in patients with DVT of upper and lower limbs. The study encompassed 119 patients divided in two groups. The group of patients with the lower limbs thrombosis included 77 patients, while the upper limbs thrombosis group included 42 patients. The presence of FV Leiden, FII G20210A and MTHFR C677T mutations was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. In patients with DVT of lower limbs, the frequency of FV Leiden mutation was 26,0% in heterozygous form and 1,3% in homozygous form. In the group of patients with DVT of upper limbs, the frequency of heterozygous carriers was 7.2%. In patients with DVT of lower limbs, FII G20210A mutation occurred in heterozygous form in 15.6% subjects, and in the group with DVT of upper limbs the frequency was 7.2% in heterozygous and 2.3% in homozygous form. The frequency of MTHFR C677T mutation in patients with lower limbs DVT was 42.8% in heterozygous form and 13% in homozygous form, while in the group of patients with upper limbs DVT, the frequency was 52.4% in heterozygous form and 9.5% in homozygous form. The FV Leiden and FII G20210A mutations represent significant risk factors for the occurrence of DVT of lower limbs. These mutations are less frequent in DVT of upper limbs and more extensive further studies are needed to determine their potential role. The MTHFR C677T mutation represents less significant risk factor for lower limb DVT and should be taken into account only in cases when it occurs in combination with other risk factors.

Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form

2017 ◽  
Vol 27 (5) ◽  
pp. 519-523 ◽  
Author(s):  
Tara Bardawil ◽  
Abdallah Rebeiz ◽  
Myriam Chaabouni ◽  
Jessica El Halabi ◽  
Zakaria Kambris ◽  
...  
Keyword(s):  
Heterozygous Form ◽  
Homozygous Form

scholarly journals Molecular Characterization of Cytidine Monophospho-N-Acetylneuraminic Acid Hydroxylase (CMAH) Gene and Frequency of Blood Types in Stray Cats of İzmir, Turkey

2020 ◽  
Author(s):  
Hüseyin Can ◽  
Sedef Erkunt Alak ◽  
Ahmet Efe Köseoğlu ◽  
Umut Şahar ◽  
Berna Bostanbaş ◽  
...  
Keyword(s):  
Type A ◽  
Type B ◽  
Exon 2 ◽  
Blood Types ◽  
Acetylneuraminic Acid ◽  
Stray Cats ◽  
High Prevalence ◽  
Heterozygous Form ◽  
Type Ab ◽  
Homozygous Form

Abstract Cytidine monophospho-n-acetylneuraminic acid hydroxylase (CMAH) gene associated with blood groups in cats encodes CMAH enzyme that converts Neu5Ac to Neu5Gc. Although variations in CMAH gene of pedigree cats have been revealed, the presence/lack of them in non-pedigree stray cats is unknown. Therefore, the present study aimed to investigate the variations in CMAH gene and the quantity of Neu5Ac and Neu5Gc on erythrocytes of non-pedigree stray cats (n:12) living in İzmir, Turkey. Meanwhile, these 12 cats were typed using the mitochondrial DNA control region. Also, the frequency of blood types was determined in 76 stray cats including 12 cats that were used for CMAH and Neu5A/Neu5Gc analysis. In total, 14 SNPs were detected in 5’UTR as well as in exon 2, 4, 9, 10, 11 and 12 of CMAH gene. Among these SNPs, -495C>T in 5’UTR was detected for the first time as heterozygous in type A and AB cats, and homozygous and heterozygous in type B cats. The remaining 13 that have been detected in previous studies were also found as homozygous or heterozygous. Homozygous form (T/T) of the -495C>T polymorphism was found among only type B cats. Among the polymorphisms previously determined in the literature, homozygous form of the -371C>T polymorphism was found among only type B cats whereas heterozygous form (A/C) of the 327A>C polymorphism was detected in only type AB cats. Both Neu5Gc and Neu5Ac were detected in type A and AB cats. In type B cats, only Neu5Ac was detected. Among two type AB cats, the level of Neu5Ac was found higher in cat carrying heterozygous form (T/C) of 1392T>C. Mitotypes A, A6, D, E and 1 were detected among stray cats analysed for the characterisation of CMAH gene. The prevalence of type B cats (67.1%) was higher than others. As a result, the presence of a new SNP as well as previous SNPs indicates that more variations can be found in stray cats with a more comprehensive study in the future. Also, the high prevalence of type B cats demonstrates the high risk of neonatal isoerythrolysis among stray cats living in İzmir, Turkey.

scholarly journals Resistance in Tomatoes to Meloidognyne incognita and M. arenaria as Affected by Gene Mi Heterozygosity and Temperature

HortScience ◽  
1995 ◽  
Vol 30 (4) ◽  
pp. 827B-827
Author(s):  
Aref A. Abdul-Baki ◽  
Sanaa A. Haroon ◽  
David J. Chitwood
Keyword(s):  
Heat Tolerance ◽  
Dominant Gene ◽  
High Temperature Stress ◽  
In Vitro Tests ◽  
Soil Temperatures ◽  
Tomato Cultivars ◽  
Heterozygous Form ◽  
Tolerance Gene ◽  
Homozygous Form

The Mi gene, which is the only source of resistance to the root-knot nematodes M. incognita and M. javanica in tomatoes, is effective only at soil temperatures below 28C. This single dominant gene exists in a homozygous form in certain tomato cultivars, in a heterozygous form in others, and is lacking in others. It has also been introduced into heat-tolerant and heat-sensitive cultivars. The availability of such genotypes allows determining whether a) the homozygous form provides more resistance than the heterozygous form and b) heat tolerance protects the Mi gene at high-temperature stress. The results of in vitro tests using excised roots show that the resistance offered by the Mi gene in the homozygous or the heterozygous form to M. incognita and M. arenaria was the same. The presence of heat tolerance gene did not protect the Mi gene from losing its effectiveness above 28C.

Linkage of preaxial polydactyly type 2 to 7q36

1995 ◽  
Vol 58 (2) ◽  
pp. 128-135 ◽  
Author(s):  
Anne V. Hing ◽  
Cynthia Helms ◽  
Rachel Slaugh ◽  
Andrea Burgess ◽  
Jen C. Wang ◽  
...  
Keyword(s):  
Preaxial Polydactyly
Sign in / Sign up

Export Citation Format

Share Document