DNA Mutational Analysis
Research News and Information

Monday, November 23, 2009

The JAL antigen (RH48) is the result of a change in RHCE that encodes Arg114Trp.

21 Dec 2009 BACKGROUND: The JAL antigen (Rh48) was discovered more than 30 years ago when it caused hemolytic disease of the fetus and newborn in an African American family. A decade later it was found to cause hemolytic disease of the fetus and newborn in a ... Read more...

Autosomal dominant junctional epidermolysis bullosa.

14 Dec 2009 BACKGROUND: Epidermolysis bullosa (EB) encompasses a heterogeneous group of inherited skin disorders associated with trauma-induced blistering. The junctional forms of EB (JEB), Herlitz JEB, non-Herlitz JEB and JEB associated with pyloric atresia ... Read more...

Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.

30 Oct 2009 OBJECTIVE: To report a 3-generation white family clinically diagnosed variably with Wagner, Stickler, and Jansen syndromes and screened for sequence variants in the COL2A1 and CSPG2 genes. Wagner syndrome is an autosomal dominant vitreoretinopathy ... Read more...

Latest indexed articles for 'DNA Mutational Analysis'

These are the very latest articles for this heading:

• The JAL antigen (RH48) is the result of a change in RHCE that encodes Arg114Trp. 21 Dec 2009
• Autosomal dominant junctional epidermolysis bullosa. 14 Dec 2009
• Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. 30 Oct 2009
• More on Schnyder corneal dystrophy. 30 Oct 2009
• Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation. 30 Oct 2009
• BRAF mutational analysis in papillary carcinomas with mixed follicular and papillary growth patterns. 30 Oct 2009
• Invasive tubular carcinoma of the breast frequently is clonally related to flat epithelial atypia and low-grade ductal carcinoma in situ. 30 Oct 2009
• CDK4 IVS4-nt40G-->A and T2D-associated obesity in Italians. 30 Oct 2009
• A homozygous CARD9 mutation in a family with susceptibility to fungal infections. 27 Oct 2009
• Risk of pancreatic cancer in families with Lynch syndrome. 26 Oct 2009
• Exploring the molecular basis of insecticide resistance in the dengue vector Aedes aegypti: a case study in Martinique Island (French West Indies). 24 Oct 2009
• X-linked thrombophilia with a mutant factor IX (factor IX Padua). 20 Oct 2009
• Comprehensive analysis of the pseudogenes of glycolytic enzymes in vertebrates: the anomalously high number of GAPDH pseudogenes highlights a recent burst of retrotrans-positional activity. 14 Oct 2009
• Chronic myeloid leukemia with p190BCR-ABL: prevalence, morphology, tyrosine kinase inhibitor response, and kinase domain mutation analysis. 13 Oct 2009
• Detection of FUS-ERG chimeric transcript in two cases of acute myeloid leukemia with t(16;21)(p11.2;q22) with unusual characteristics. 13 Oct 2009
• Customised molecular diagnosis of primary immune deficiency disorders in New Zealand: an efficient strategy for a small developed country. 7 Oct 2009
• Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution. 6 Oct 2009
• X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions. 29 Sep 2009
• Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy? 29 Sep 2009
• Epidermal growth factor receptor and K-RAS mutations in 411 lung adenocarcinoma: a population-based prospective study. 29 Sep 2009

See a longer list of these articles.

Technical information about 'DNA Mutational Analysis'

Definition: Biochemical identification of mutational changes in a nucleotide sequence.

Descriptor UI: D004252

Alternative terms: DNA Mutational Analysis; Analysis, DNA Mutational; Analyses, DNA Mutational; DNA Mutational Analyses; Mutational Analyses, DNA; Mutational Analysis, DNA;

Related Mesh Headings: Polymorphism, Single-Stranded Conformational;

Allowable Qualifiers: adverse effects; classification; economics; history; instrumentation; methods; mortality; nursing; psychology; standards; trends; utilization; veterinary; statistics & numerical data; contraindications; ethics;

Tree Number: E05.393.760.700.300;

History Note: 91(88); was see under BASE SEQUENCE 1988-90

Technical Notes: IM GEN only; coord NIM with specific DNA &/or specific protein (IM); DF: DNA MUTATIONAL ANAL