DNA typing of anHLA-DR bilocus specificity by gene amplification and oligonucleotide hybridization

1989 ◽  
Vol 29 (4) ◽  
pp. 225-230 ◽  
Author(s):  
Rosa Sorrentino ◽  
Carlo Iannicola ◽  
Simone Botti ◽  
Sandro Costanzi ◽  
Nobuyuki Tanigaki ◽  
...  
Keyword(s):  
Gene Amplification ◽  
Dna Typing ◽  
Oligonucleotide Hybridization

DNA TYPING OF HLA-DQ ALLELES BY GENE AMPLIFICATION OF DQA AND DQB VARIABLE EXONS: ANALYSIS OF DQA/DQB HAPLOTYPES

1992 ◽  
Vol 19 (6) ◽  
pp. 373-380 ◽  
Author(s):  
C. Pera ◽  
L. Delfino ◽  
G. Angelini ◽  
A. Longo ◽  
G. B. Ferrara
Keyword(s):  
Gene Amplification ◽  
Dna Typing ◽  
Hla Dq

Localization of the Br Polymorphism on a 144 bp Exon of the GPIa Gene and Its Application in Platelet DNA Typing

1994 ◽  
Vol 71 (05) ◽  
pp. 651-654 ◽  
Author(s):  
Rainer Kalb ◽  
Sentot Santoso ◽  
Katja Unkelbach ◽  
Volker Kiefel ◽  
Christian Mueller-Eckhardt
Keyword(s):  
Genomic Organization ◽  
Fragment Length Polymorphism ◽  
Human Platelet ◽  
Dna Typing ◽  
Rflp Analysis ◽  
Serological Typing ◽  
Allele Specific ◽  
Polymerase Chain ◽  
Alloimmune Thrombocytopenia ◽  
Rflp Typing

SummaryAlloimmunization against the human platelet alloantigen system Br (HPA-5) is the second most common cause of neonatal alloimmune thrombocytopenia (NAIT) in Caucasian populations. We have recently shown that a single base polymorphism at position 1648 on platelet mRNA coding for GPIa results in an aminoacid substitution at position 505 on the mature GPIa which is associated with the two serological defined Br phenotypes.Since DNA-typing of platelet alloantigens offers possibilities for useful clinical applications, we designed genomic DNA-based restriction fragment length polymorphism (RFLP) typing for Br alloantigens. To establish this technique we analyzed the genomic organization of GPIa adjacent to the polymorphic base. Using the polymerase chain reaction (PCR) of blood cell DNA we have identified two introns (approximately 1.7 and 1.9 kb) flanking a 144 bp coding sequence of the GPIa gene encompassing the polymorphic base 1648. Based on the in- tron sequence, a PCR primer was constructed to amplify a 274 bp fragment which was used for allele-specific RFLP to determine the Br genotypes. The results of RFLP analysis using Mnll endonuclease obtained from 15 donors (2 Br37*, 2 Br^ and 11 Brb/b) correlate perfectly with serological typing by monoclonal antibody-specific immobilization of platelet antigens (MAIPA) assay.

A Novel Missense Mutation in the Endoglin Gene in Hereditary Hemorrhagic Telangiectasia

1997 ◽  
Vol 77 (02) ◽  
pp. 243-247 ◽  
Author(s):  
Hiroshi Yamaguchi ◽  
Hiroyuki Azuma ◽  
Toshio Shigekiyo ◽  
Hideo Inoue ◽  
Shiro Saito
Keyword(s):  
Missense Mutation ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Autosomal Dominant Disorder ◽  
Her Family ◽  
Normal Individuals ◽  
Oligonucleotide Hybridization ◽  
Vascular Dysplasia ◽  
Exon 4

SummaryHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystem vascular dysplasia and recurrent hemorrhage. Recent investigation has mapped one of the responsible genes for HHT to chromosome 9q33-q34; subsequently, nine different mutations have been identified in the endoglin gene, which encodes a transforming growth factor β(TGF-β) binding protein, in nine unrelated families with HHT. We examined the endoglin gene in a Japanese patient with HHT and her family members. Using PCR-SSCP. analysis followed by sequencing, we identified a C to A missense mutation in exon 4 which changed an Ala160 codon(GCT) to an Asp160 codon (GAT). Since this mutation destroys one of three Fnu4H I sites in exon 4, the Fnu4H I digestion patterns of the PCR-amplified exon 4 fragments from each family member were analyzed. In affected members, the restriction patterns were all consistent with a phenotype of HHT. PCR-amplified exon 4 fragments from 150 normal individuals were also analyzed by allele-specific oligonucleotide hybridization analysis. As a result, the mutation was not found in any of them. We conclude that the C to A mutation in exon 4 of the endoglin gene in this proband is responsible for the occurrence of HHT in this family.

Reevaluation of gene amplification in medulloblastomas

2004 ◽  
Vol 216 (03) ◽  
Author(s):  
T Lenschen ◽  
J Mühlisch ◽  
H Jürgens ◽  
C Plass ◽  
D Smiraglia ◽  
...  
Keyword(s):  
Gene Amplification

HER-2 gene amplification in pancreatic cancer

2004 ◽  
Vol 42 (05) ◽  
Author(s):  
K Borka ◽  
A Kiss ◽  
A Tőkés ◽  
P Kaliszky ◽  
P Kupcsulik ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Gene Amplification ◽  
Her 2

A PILOT STUDY OF HER-2/NEU GENE AMPLIFICATION ASSESSED BY FLUORESCENCE IN SITU HYBRIDIZATION (FISH) IN GASTRIC CANCER

2014 ◽  
pp. 15-20
Author(s):  
Van Huy Tran ◽  
Thi Minh Thi Ha ◽  
Trung Nghia Van ◽  
Viet Nhan Nguyen ◽  
Phan Tuong Quynh Le ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Cancer Patients ◽  
Gene Amplification ◽  
Cancer Tissue ◽  
Tissue Samples ◽  
Her 2 ◽  
Gastric Cancer Patients

Background: HER-2/neu is a predictive biomarker for treatment of gastric cancer using trastuzumab in combination with chemotherapy. This study aimed to evaluate the status of HER-2/neu gene amplification using fluorescence in situ hybridization (FISH) in gastric cancer. Patients and methods: thirty six gastric cancer patients were assessed HER-2/neu gene amplification by FISH using PathVysionTM HER-2 DNA Probe kit (including HER-2/neu probe and CEP-17 probe) with biopsy and surgical specimens. Results: The HER-2/neu gene amplification was observed in three cases (8.3%), the HER-2/neu gene amplification rate in Lauren’s intestinal-type and diffuse-type were 11.8% and 5.2%, respectively. Conclusion: We applied successfully FISH technique with gastric cancer tissue samples. This technique could be performed as routine test in gastric cancer in order to select patients that benefit from trastuzumab in combination with chemotherapy.

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