搜索结果: 1-15 共查到“知识库 医学 Mutation”相关记录27条 . 查询时间(0.106 秒)
Plasma folate, vitamin B-6, and vitamin B-12 and breast cancer risk in BRCA1- and BRCA2-mutation carriers: a prospective study
BRCA BRCA1 BRCA2 breast cancer B vitamins epidemiology folate hereditary breast cancer vitamin B-6 vitamin B-12
2018/12/14
Background: B vitamins [vitamins B-6, B-9 (folate), and B-12] play important roles in nucleotide biosynthesis and biological methylation reactions, aberrancies of which have all been implicated in car...
Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome
folate homocysteine mutation
2016/6/1
Down syndrome, or trisomy 21, is a complex
genetic disease resulting from the presence of 3 copies of chromosome
21. The origin of the extra chromosome is maternal in
95% of cases and is due to the...
First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population
Gene Deletion Phenylalanine Hydroxylase Phenylketonuria
2016/1/26
Introduction: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene. Most of the PAH mutations a...
A Novel Missense Mutation, E1623G,in the Human Factor VIII Gene Associated With Moderate Haemophilia A
Hemophilia A Mutation Missense F8 protein human
2015/10/10
Introduction:: Haemophilia A is the most common inherited X-linked recessive bleeding disorder. The severity of the resultant bleeding diathesis depends on the FVIII levels associated with the mutatio...
Prevalence of the HFE Gene Mutation in the Liver Trans-planted and Primary Hemochromatosis Patients in the Southern Iran
HFE gene Hemochromatosis Liver transplant
2015/9/22
Background: Primary hemochromatosis is an inherited disorder. Mutation in this gene is accompanied with iron overload in the body leading to organ failure that primarily affects liver. Individuals wi...
PREVALENCE OF MT DNA MUTATION IN TYPE II DIABETES MELLITUS
Diabetes Mellitus Type II Mitochondria mt DNA A3243G 5kb
2009/12/31
Background: Mitochondria is one of the intracellular organelle with specific DNA. Some diseases caused by mtDNA mutations have been reported up to now. Mutation of A3243G and deletion of 5kb are two o...
Detection of Mutation in 23S rRNA in Isolates of Streptococcus pyogenes Resistant to Erythromycin
Streptococcus pyogenes 23S rRNA erythromycin-resistance
2009/12/17
Background: In this study, erythromycin resistance isolates from the students with aged 12-15 yr old were studied and the mutations in the 23S rRNA were identified by sequencing.Methods: Throat sample...
Detection of Cystic Fibrosis DF508 Mutation in the Çukurova Region
Mutation Cystic Fibrosis Ç ukurova Region
2009/6/29
Cystic fibrosis (CF) is a well-known inherited multisystem disorder characterised primarily by chronic obstructive lung disease and maldigestion. The frequency of the disease varies among ethnic group...
Analysis of ras Gene Mutation in Human Oral Tumours by Polymerase Chain Reaction and Direct Sequencing
Oral tumour PCR Direct sequencing Tobacco-specific nitrosamines
2009/6/29
Genetic alterations in proto-oncogenes or tumour suppressor genes are believed to be one of the key events in the multistage process of carcinogenesis. Activating point mutations occurring in either o...
Identification of a Novel Frameshift Mutation [Codon 3 (+T)] in a Turkish Patient with b-Thalassemia Intermedia
b-thalassemia b-globin gene insertion frameshift mutation DNA sequencing
2009/6/22
b-Thalassemia, one of the most widespread genetic diseases in the world, is an autosomal recessive disease generally caused by point mutations in the b-globin gene that is located as a cluster on the ...
Mutation Analysis By The Use of Temporal Temperature Gradient Gel Electrophoresis
mutation mutation detection techniques molecular scanning nuclear gene mitochondrial mutations
2009/6/22
Today, technological development continues in the mutational analysis area of molecular medicine. In the past few years, the necessity to screen amplified DNA products to identify mutations or polymor...
Is MEFVGene Arg202Gln (605 G>A) A Disease-Causing Mutation?
Familial Mediterranean fever (FMF) amyloidosis MEFVgene R202Q
2009/6/16
Aim: Familial Mediterranean fever (FMF) is an autosomal recessive disease. Arg202Gln was reported as a frequent polymorphism, and G allele of the mutation was in linkage disequilibrium with M694V. Thu...
Angioid streaks (AS) are hereditary eye conditions caused by breaks in the elastic layer of Bruch's membrane. Patients with AS are also frequently affected with pseudoxanthoma elasticum (PXE). The l...
Genotype-Phenotype Analysis of Mutation R778L in the ATP7B Gene
genotype-phenotype mutation ATP7B Wilson’s disease
2009/4/1
Wilson’s disease (WD), an autosomal recessive disorder of copper transport, usually presents with symptoms of the liver or central nervous system. The known disease-caused mutations identified in the ...
Hst7:a male sterility mutation perturbing sperm motility, flagellar assembly, and mitochondrial sheath differentiation
Allele asthenospermia axoneme t complex t haplotype
2009/2/17
Hst7, a mouse hybrid sterility locus, has been mapped in close linkage to four other hybrid sterility loci, on proximal chromosome 17 within the t complex. When an allele (s) of Hst7 from the specie...