SUBLOCALIZATION OF THE HUMAN PROTEIN-C GENE ON CHROMOSOME 2Q13-Q14

The 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

CHARACTERIZATION AND MAPPING OF THE 5' PORTION OF VONWILLEBRAND-FACTOR PSEUDOGENE

A 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

Heterozygous Deletion of the 3' Portion of Factor X Gene in a Family with Factor X Deficiency.

Heterozygous Deletion found in the 3' Portion of Factor X Gene in a family with Coagulation Factor X Deficiency

A polymorphism in the 5' region of coagulation factor VII gene (F7) caused by an inserted decanucleotide.

We 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

PCR Detection of a Repeat Polymorphism within the Factor VII Gene.

A 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

PCR Amplification and Sequencing of the Breakpoint in a Heterozygous Gene Deletion Causing a Dominant Variant of von Willebrand Disease.

PCR 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