scholarly journals Coding Region Mutation Screening in Optineurin in Chinese Normal-Tension Glaucoma Patients

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
Jing Na He ◽  
Shiyao Lu ◽  
Li Jia Chen ◽  
Pancy Oi Sin Tam ◽  
Bi Ning Zhang ◽  
...  
Keyword(s):  
Mutation Screening ◽  
Susceptibility Gene ◽  
Normal Tension Glaucoma ◽  
Chinese Patients ◽  
Causative Mutation ◽  
Allelic Association ◽  
Coding Region ◽  
Control Subjects ◽  
Genotypic Association ◽  
And Control

Purpose. To study the roles of sequence alterations in the optineurin (OPTN) gene-coding region in normal-tension glaucoma (NTG) among Chinese patients. Methods. Genomic DNA was extracted from 190 NTG patients and 201 control subjects. The thirteen exons of OPTN were amplified by polymerase chain reaction and analyzed by direct sequencing. Detected sequence changes were compared between NTG patients and control subjects. Results. Seven sequence changes in OPTN were identified in both NTG patients and control subjects. Among them, c.464G>A (T34 T), c.509C>T (T49T), c.806G>A (V148V), and c.959T>C (P199P) were synonymous codon changes, whilst c.655T>A (M98K), c.1996G>A (R545Q), and c.1582T>C (I407T) were missense changes. Two previously reported heterozygous mutations, c.458G>A (E50K) in exon 4 and c.691_692insAG in exon 6, were not found in this study. Out of these seven OPTN sequence variants, c.464G>A (T34T) was significantly associated with NTG in both the allelic and genotypic association analyses (allelic association: p=0.0001, OR=2.20, 95% CI: 1.46-3.31; genotypic association: p=0.0001), whereas the association of other variants with NTG did not reach statistical significance (p>0.05). Variants c.1582 T>C (I407T) and c.806G>A (V148V) were identified in one and two NTG patients, respectively, but not in the control subjects. Conclusions. This study confirmed the association of the OPTN T34T variant with NTG, suggesting that OPTN is a susceptibility gene for NTG in Chinese. Moreover, a variant with amino acid change (I407T) was identified in NTG but not in controls. Further studies are warranted to assess whether this variant is a causative mutation for NTG.

Mutation Profiling in Haemophilia A

2001 ◽  
Vol 85 (04) ◽  
pp. 577-579 ◽  
Author(s):  
J. Oldenburg
Keyword(s):  
Denaturing Gradient Gel Electrophoresis ◽  
Mutation Screening ◽  
Screening Method ◽  
Coagulation Factor ◽  
Causative Mutation ◽  
Haemophilia A ◽  
Coding Region ◽  
Systematic Analysis ◽  
Intron 22 Inversion ◽  
Gradient Gel Electrophoresis

SummaryHaemophilia A is a X-linked recessive bleeding disorder caused by deficiency or absence of coagulation factor VIII (FVIII) due to heterogeneous defects in the FVIII gene. The large size of the FVIII gene (26 exons spanning 186 kb) has hampered mutation analysis for many years. In 1991 the first systematic analysis of the complete coding region of the FVIII gene was performed by Higuchi et al. using Denaturing Gradient Gel Electrophoresis (DGGE) as a mutation screening method (1, 2). Notably, the causative mutation was not found in about half of the severely affected patients (1). This mystery was solved in 1993, when the intron 22 inversion was discovered (3, 4) that accounts for about 50% of the severe haemophilia A cases. The inversion mutation can be easily detected by Southern Blot. A recently described PCR-based method is more sophisticated, however once established, it allows rapid and convenient detection of the intron 22 inversion (5).

scholarly journals Genetic Variations of Cytokines and Cytokine Receptors in Psoriasis Patients from China

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Xiao-Lan Li ◽  
Chun-Feng Wu ◽  
Gui-Sheng Wu
Keyword(s):  
Protective Factor ◽  
Chinese Patients ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Control Subjects ◽  
Genetic Patterns ◽  
Il12b Gene ◽  
Genetic And Environmental Factors ◽  
And Control ◽  
Control Study

Psoriasis is a chronic inflammatory and hyperproliferative skin disease affected by both genetic and environmental factors. The aim of the present study was to investigate polymorphisms in a candidate gene family of interleukin (IL) in unrelated Chinese patients with psoriasis and control subjects without psoriasis. In this case-control study, 200 unrelated Chinese psoriasis patients and 298 age- and sex-matched control subjects were enrolled. Genomic DNA was prepared from peripheral blood obtained from all psoriasis patients and control subjects. We genotyped seven single-nucleotide polymorphisms (SNPs) in candidate genes of six ILs: IL4, IL10, IL12B, IL13, IL15, and IL23R, which have been shown in the literature to be associated with psoriasis in other ethnic groups. Among the seven SNPs in the six IL genes studied, only the rs3212227 in the IL12B gene was found to be associated with psoriasis at genotypic level in the studied population. The C/C genotype in the IL12B gene is a protective factor of psoriasis (P = 0.0218; OR = 0.51; 95% CI: 0.27–0.96) in Chinese. Furthermore, the studied Chinese population has extremely low minor allele frequency for IL23R. Together, the data reveal unique genetic patterns in Chinese that may be in part responsible for the lower risk for psoriasis in this population.

Comparative Study of Cerebral Blood Flow in Patients With Normal-tension Glaucoma and Control Subjects

2006 ◽  
Vol 141 (2) ◽  
pp. 394-396 ◽  
Author(s):  
Tetsuya Sugiyama ◽  
Keita Utsunomiya ◽  
Hitoya Ota ◽  
Yasuharu Ogura ◽  
Isamu Narabayashi ◽  
...  
Keyword(s):  
Blood Flow ◽  
Cerebral Blood Flow ◽  
Comparative Study ◽  
Normal Tension Glaucoma ◽  
Control Subjects ◽  
And Control

The Effects of a Neutral Stimulus (Buzzer) on Motor Responses and Disfluencies in Normal Speakers

1969 ◽  
Vol 12 (1) ◽  
pp. 179-184 ◽  
Author(s):  
Richard R. Martin ◽  
Gerald M. Siegel
Keyword(s):  
College Students ◽  
Neutral Stimulus ◽  
Motor Responses ◽  
Control Subjects ◽  
And Control ◽  
Speaking Task

Seventy-two college students were divided into three groups: Button Push-Speech (BP-S), Speech-Button Push (S-BP), and Control. BP-S subjects pushed one of two buttons on signal for 8 min. During the last 4 min, depression of the criterion button caused a buzzer to sound. After the button-push task, subjects spoke spontaneously for 30 min. During the last 20 min, the buzzer was presented contingent upon each disfluency. S-BP subjects were run under the same procedures, but the order of button-push and speech tasks was reversed. Control subjects followed the same procedures as S-BP subjects, but no buzzer signal was presented at any time. Both S-BP and BP-S subjects emitted significantly fewer disfluencies during the last 20 min (Conditioning) than during the first 10 min (Baserate) of the speaking task. The frequency of disfluencies for Control subjects did not change significantly from Baserate to Conditioning. In none of the three groups did the frequency of pushes on the criterion button change significantly from minute to minute throughout the 8-min button-push session.

Characterization of the Original Christmas Disease Mutation (Cysteine 206 → Serine): From Clinical Recognition to Molecular Pathogenesis

1992 ◽  
Vol 67 (01) ◽  
pp. 063-065 ◽  
Author(s):  
Sherryl A M Taylor ◽  
Jacalyn Duffin ◽  
Cherie Cameron ◽  
Jerome Teitel ◽  
Bernadette Garvey ◽  
...  
Keyword(s):  
Nucleotide Substitution ◽  
Novel Mutation ◽  
Factor Ix ◽  
Causative Mutation ◽  
Coding Region ◽  
Body Of Knowledge ◽  
Polymerase Chain ◽  
Splice Junctions

SummaryChristmas disease was first reported as a distinct clinical entity in two manuscripts published in 1952 (1, 2). The eponym associated with this disorder, is the surname of the first patient examined in detail and reported by Biggs and colleagues in a paper describing the clinical and laboratory features of seven affected individuals (3). This patient has severe factor IX coagulant deficiency (less than 0.01 units/ml) and no detectable circulating factor IX antigen (less than 0.01 units/ml). Coding sequence and splice junctions of the factor IX gene from this patient have been amplified in vitro through the polymerase chain reaction (PCR). One nucleotide substitution was identified at nucleotide 30,070 where a guanine was replaced by a cytosine. This mutation alters the amino acid encoded at position 206 in the factor IX protein from cysteine to serine. The non conservative nature of this substitution, the absence of this change in more than 200 previously sequenced factor IX genes and the fact that the remainder of the coding region of this gene was normal, all provide strong circumstantial evidence in favour of this change being the causative mutation in this patient. The molecular characterization of this novel mutation in the index case of Christmas disease, contributes to the rapidly expanding body of knowledge pertaining to Christmas disease pathogenesis.

Tests for Platelet Changes, Acute Phase Reactants and Serum Lipids in Diabetes mellitus and Peripheral Vascular Disease

1982 ◽  
Vol 48 (03) ◽  
pp. 289-293 ◽  
Author(s):  
B A van Oost ◽  
B F E Veldhuyzen ◽  
H C van Houwelingen ◽  
A P M Timmermans ◽  
J J Sixma
Keyword(s):  
Diabetes Mellitus ◽  
Vascular Disease ◽  
Peripheral Vascular Disease ◽  
Acute Phase ◽  
Serum Lipids ◽  
Diabetic Patients ◽  
Peripheral Vascular ◽  
Acute Phase Reactants ◽  
Control Subjects ◽  
And Control

SummaryPlatelets tests, acute phase reactants and serum lipids were measured in patients with diabetes mellitus and patients with peripheral vascular disease. Patients frequently had abnormal platelet tests and significantly increased acute phase reactants and serum lipids, compared to young healthy control subjects. These differences were compared with multidiscriminant analysis. Patients could be separated in part from the control subjects with variables derived from the measurement of acute phase proteins and serum lipids. Platelet test results improved the separation between diabetics and control subjects, but not between patients with peripheral vascular disease and control subjects. Diabetic patients with severe retinopathy frequently had evidence of platelet activation. They also had increased acute phase reactants and serum lipids compared to diabetics with absent or nonproliferative retinopathy. In patients with peripheral vascular disease, only the fibrinogen concentration was related to the degree of vessel damage by arteriography.

scholarly journals The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects

2021 ◽  
Vol 28 ◽  
pp. 100777
Author(s):  
Christel Tran ◽  
Licia Turolla ◽  
Diana Ballhausen ◽  
Sandrine Cornaz Buros ◽  
Tony Teav ◽  
...  
Keyword(s):  
Sialic Acid ◽  
Acetylneuraminic Acid ◽  
Control Subjects ◽  
And Control

scholarly journals Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility

Cancers ◽  
2021 ◽  
Vol 13 (11) ◽  
pp. 2704
Author(s):  
Sally Yepes ◽  
Nirav N. Shah ◽  
Jiwei Bai ◽  
Hela Koka ◽  
Chuzhong Li ◽  
...  
Keyword(s):  
Internal Control ◽  
Susceptibility Gene ◽  
Copy Number Variants ◽  
Bone Cancer ◽  
Chinese Patients ◽  
European Ancestry ◽  
Unknown Etiology ◽  
Loss Of Function ◽  
Single Nucleotide Variants ◽  
Pathogenic Variants

Background: Chordoma is a rare bone cancer with an unknown etiology. TBXT is the only chordoma susceptibility gene identified to date; germline single nucleotide variants and copy number variants in TBXT have been associated with chordoma susceptibility in familial and sporadic chordoma. However, the genetic susceptibility of chordoma remains largely unknown. In this study, we investigated rare germline genetic variants in genes involved in TBXT/chordoma-related signaling pathways and other biological processes in chordoma patients from North America and China. Methods: We identified variants that were very rare in general population and internal control datasets and showed evidence for pathogenicity in 265 genes in a whole exome sequencing (WES) dataset of 138 chordoma patients of European ancestry and in a whole genome sequencing (WGS) dataset of 80 Chinese patients with skull base chordoma. Results: Rare and likely pathogenic variants were identified in 32 of 138 European ancestry patients (23%), including genes that are part of notochord development, PI3K/AKT/mTOR, Sonic Hedgehog, SWI/SNF complex and mesoderm development pathways. Rare pathogenic variants in COL2A1, EXT1, PDK1, LRP2, TBXT and TSC2, among others, were also observed in Chinese patients. Conclusion: We identified several rare loss-of-function and predicted deleterious missense variants in germline DNA from patients with chordoma, which may influence chordoma predisposition and reflect a complex susceptibility, warranting further investigation in large studies.

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