scholarly journals Genetic analysis of the STIM1 gene in chronic pancreatitis

2019 ◽  
Author(s):  
Emmanuelle Masson ◽  
Wen-Bin Zou ◽  
Claudia Ruffert ◽  
Vanessa Holste ◽  
Patrick Michl ◽  
...  
Keyword(s):  
Chronic Pancreatitis ◽  
Genetic Analysis ◽  
Sanger Sequencing ◽  
Complex Disease ◽  
Molecular Genetic ◽  
Acinar Cells ◽  
Molecular Genetic Analysis ◽  
Chinese Patients ◽  
Pancreatic Acinar Cells ◽  
Coding Variants

ABSTRACTChronic pancreatitis is a complex disease that involves many factors, both genetic and environmental. Over the past two decades, molecular genetic analysis of five genes that are highly expressed in human pancreatic acinar cells, namely PRSS1, PRSS2, SPINK1, CTRC and CTRB1/CTRB2, has established that a trypsin-dependent pathway plays a key role in the etiology of chronic pancreatitis. Since Ca2+ deregulation can lead to intracellular trypsin activation in experimental acute pancreatitis, we analyzed STIM1 (encoding stromal interaction molecule-1, the main regulator of Ca2+ homeostasis in pancreatic acinar cells) as a candidate modifier gene in French, German and Chinese patients with chronic pancreatitis. The French and German subjects were analyzed by Sanger sequencing whereas the Chinese subjects were analyzed by targeted next-generation sequencing confirmed by Sanger sequencing. A total of 37 rare coding variants (35 missense and 2 nonsense) were identified, which were enriched in patients as compared with controls [2.28% (47/2,057) vs. 0.99% (33/3,322); odds ratio = 2.33, P = 0.0001]. This is the first large case-control study to demonstrate a putative association of rare STIM1 coding variants with chronic pancreatitis. Functional analysis will be required to clarify whether or not the rare STIM1 variants detected predispose to pancreatitis.

scholarly journals Molecular genetic analysis of the EXT2 gene - causes of hereditary multiple exostoses in Yakuts

2020 ◽  
pp. 59-60
Author(s):  
А.Е. Яковлева ◽  
Д.А. Петухова ◽  
А.Л. Данилова ◽  
А.Л. Сухомясова ◽  
Н.Р. Максимова
Keyword(s):  
Genetic Analysis ◽  
Clinical Diagnosis ◽  
Sanger Sequencing ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Genetic Studies ◽  
Rare Mutation ◽  
Parallel Sequencing ◽  
Hereditary Multiple Exostoses ◽  
Multiple Exostoses

В статье представлены результаты молекулярно-генетических исследованиий больных с множественной экзостозной хондродисплазией (МЭХД), причиной которой явилась редкая мутация в гене EXT2. Исследованы 65 больных с МЭХД и их родственников из 30 неродственных семей. Для молекулярно-генетического анализа было использовано массовое параллельное секвенирование и прямое секвенирование по Сэнгеру. У 16 больных из 4 семей с клиническим диагнозом МЭХД была выявлена редкая нонсенс-мутация c.751С>T в экзоне 5 гена EXT2 в гетерозиготном состоянии. Here we present molecular genetic studies of Yakut patients with hereditary multiple exostoses (HME), which caused by a rare mutation in the EXT2 gene. A total of 65 patients with clinical diagnosis of HME and their relatives from 30 unrelated families were examined. For molecular genetic analysis, massive parallel sequencing (MPS) and direct Sanger sequencing were used. In 16 patients from 4 families with a clinical diagnosis of HME, a rare heterozygous nonsense mutation c.751C> T was detected in exon 5 of the EXT2.

scholarly journals The association between chronic pancreatitis and the iNOS-2087A>G polymorphism

2017 ◽  
Vol 55 (2) ◽  
pp. 89-95
Author(s):  
Vlad Pădureanu ◽  
Anca Ştefania Enescu ◽  
Isabela Siloşi ◽  
Maria Forţofoiu ◽  
Aurelia Enescu ◽  
...  
Keyword(s):  
Chronic Pancreatitis ◽  
Genetic Analysis ◽  
Venous Blood ◽  
Acinar Cells ◽  
Pancreatic Acinar Cells ◽  
Study Group ◽  
Ductal Cells ◽  
Dna Molecule ◽  
Taqman Probes ◽  
Breeding Grounds

AbstractIntroduction. Chronic pancreatitis is morphologically characterized by ductal dysplasia, breeding grounds for the proliferation of the ductal cells, the degenerative changes in pancreatic acinar cells and fibrosis, and it is defined on the basis of the clinical, morphological and functional criteria.Aim. The aim of our study is to examine the existence of a possible correlation between the iNOS-2087A>G polymorphism and chronic pancreatitis by means of the genetic analysis.Material and method. We have conducted the study at the Gastroenterology Clinic and the Research Center of Gastroenterology and Hepatology of the University of Medicine and Pharmacy, Craiova, between March 2015 – September 2016. The study had a prospective character. Both for the 58 patients diagnosed with chronic pancreatitis and for the 132 patients in the witness group, the biological material was represented by blood, (around 2.5 – 5 milliliters of venous blood) let on EDTA and kept at 4°C up to the separation of the DNA molecule. All the patients were genotyped for the iNOS – 2087A>G polymorphism, by means of the Real Time PCR technique with TaqMan probes.Results. Analysing the prevalence of the iNOS genotypes within the study group and witness group, we have noticed that, statistically speaking, there are no significant differences between the two groups.Conclusion. As a conclusion, in the study lot we can sustain that the risk of developing chronic pancreatitis is not increased by the presence of the iNOS-2087A>G polymorphism.

CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA

Retina ◽  
2020 ◽  
Vol 40 (11) ◽  
pp. 2240-2253 ◽  
Author(s):  
Xiaoxu Han ◽  
Shijing Wu ◽  
Hui Li ◽  
Tian Zhu ◽  
Xing Wei ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Characteristics ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Chinese Patients

Schinzel—Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis

2018 ◽  
Vol 17 (03) ◽  
pp. 125-127
Author(s):  
Jana Neupauerová ◽  
Katalin Štěrbová ◽  
Vladimír Komárek ◽  
Andrea Gřegořová ◽  
Markéta Vlčková ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Sanger Sequencing ◽  
De Novo ◽  
Genetic Disorder ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Facial Features ◽  
De Novo Mutations ◽  
Whole Exome ◽  
Exon 4

AbstractSchinzel–Giedion syndrome (SGS) is a very rare genetic disorder characterized by distinctive facial features, severe developmental delay, seizures, and skeletal abnormalities. Whole exome sequencing, Sanger sequencing, and correlation with already published variants and cases allowed us to identify two different de novo mutations in the SETBP1 gene: NM_015559.2 (SETBP1): c.2601C > G (p.Ser867Arg) and c. 2608 G > A (p.Gly870Ser) in two Czech patients presenting with SGS features. Both mutations are within exon 4 of SETBP1, supporting the notion that exon 4 represents the mutation hotspot of the gene in patients with SGS.

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