1,721,004 research outputs found
PCR Detection of a Repeat Polymorphism within the F7 Gene
No full textA 193 bp cDNA fragment corresponding to exon 4 of the published cDNA sequence (1) for the human NFI gene was amplified by PCR using 5'-ATAATTGTTGATGTGATTUCATTG as forward primer and 5'-AATTTTGAACCAGATGAAGAG as reverse primers. This cDNA was used as a probe for hybridization of southern blots made from human DNA samples.
Polymorphism: TaqI digestion yields two bands of 7.0 kb and
6.5 kb without constant band.
Frequency: Studied in a total of 40 unrelated Caucasians (20 males and 20 females)
Bi 7.0 kb allele: 0.4
B2 6.5 kb allele: 0.6
Frequency of heterozygosity: 0.48.
Not Polymorphic For: EcoRI, PstI, PvuII in 10 unrelated
Caucasians.
Chromosomal Localization: Assigned to 17q1 1 within NFl gene
(1). Mendelian Inheritance: Co-dominant segregation of the TaqI
RFLP was observed in two informative von Recklinghausen Neurofibromatosis (NF-1) families (10 meioses). Cosegregation
with the NF-1 phenotype was observed in all these families
A polymorphism in the 5′ region of coagulation factor VII gene (F7) caused by an inserted decanucleotide
No full textWe describe a polymorphism in the 5' region of the coagulation factor VII (FVII) gene, originating from a decanucleotide (CCTATATCCT) insert present in the less frequent allele. This marker can be detected by restriction analysis of polymerase chain reaction products
Sublocalization of the human protein C gene on chromosome 2q13-q14
No full textThe localization of human protein C gene on chromosome 2 was investigated by in situ hybridization using a partial cDNA for protein C. Silver-grain analysis indicates that the protein C gene is located on 2q13-q14. © 1989 Springer-Verlag
Localization of cloned human DNA sequences and analysis of chromosomal alteration by in situ hybridization
No full textThe in situ hybridization technique was used for the localization on human chromosomes of single-copy and repeated sequences and, in addition, for the characterization of altered human chromosomes. Two anonymous clones, single or low-copy, obtained from a human X chromosome library were localized on the distal part of the long arm and in the paracentromeric region of X chromosome, respectively. A genomic fragment of the single-copy thyroglobulin (TG) gene was used to confirm the localization on the distal part of the long arm of chromosome 8. The localization and distribution on human chromosomes of the glyceraldehyde-3-phosphate dehydrogenase (GAPD) multigene family obtained by in situ hybridization and by somatic cell hybrids were compared. A phosphoglycerate kinase (PGK) c-DNA clone, which detects genic and pseudogenic sequences on the X chromosome, was used for the characterization of three small ring markers present in unrelated female patients
VONWILLEBRAND DISEASE INVESTIGATED BY 2 NOVEL RFLPS
No full textTwo partial cDNAs for von Willebrand factor (vWF) were used to investigate gene lesions and restriction fragment length polymorphisms (RFLPs) in vW disease (vWd) and normal controls. No gene alteration was detected but two TaqI RFLPs, likely to be intronic and originating from point mutations, were found in the 3' part of
vWF gene. The two TaqI RFLPs, identified by the same probe, are informative in approximately 50% of the subjects. Used in combination with two other known RFLPs, they define several haplotypes similarly distributed in vWd and normals.
Linkage disequilibrium between loci identified by the RFLPs is present. In a family study the RFLP patterns demonstrate homozygosity for the affected vWF genein a severe (type III) patient and identify several heterozygous subjects. The RFLPs analysis has been related to the haemostatic values and multimerdistribution. In two of the four unrelated patients with severe vWd examined the RFLPs study indicates double heterozygosity for the affected vWF genes
Detection and characterization of polymorphic markers in the factor-VII gene.
No full textDetection and characterization of polymorphic markers in the factor-VII gene, useful in family diagnosis of FVII deficiency
Detection of a Missense Mutation Causing Severe Hemophilia A by PCR, Fluorescence Scanning and ASO Hybridation.
No full textPCR Amplification and Sequencing of the Breakpoint in a Heterozygous Gene Deletion Causing a Dominant Variant of von Willebrand Disease.
No full textPCR Amplification and Sequencing of the Breakpoint in a Heterozygous Gene Deletion Causing a Dominant Variant of von Willebrand Disease, afffecting vWF multimerization process, yieldng a dominant and severe clinical phenotype
Characterization and mapping of the 5′ portion of von Willebrand factor pseudogene
No full textA genomic fragment containing the 5' boundary of the von Willebrand factor pseudogene was cloned, partially sequenced and used for in situ hybridization experiments on metaphase spreads from a Philadelphia chromosome (Ph1)-positive chronic myelogenous leukemia patient. Data obtained indicate that the von Willebrand factor pseudogenic region is centromeric to the breakpoint cluster region on 22q11.2. This probe could be used for the study of deletions in the DiGeorge syndrom
Direct detection of a missense mutation causing severe hemophilia A by PCR amplification and fluorescence scanning
No full textThe amplification of Factor VIII gene-specific sequences, obtained by polymerase chain reaction, was used for hemophilia A carrier detection. Exon 24 sequences were employed in the carrier status determination of a missense mutation causing severe hemophilia A in two unrelated patients. After agarose gel electrophoresis, the digested DNA was subjected to quantitative determination of fluorescence. This technique significantly improves the digest analysis
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