Related Experiment Video
Updated: Aug 12, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Possible misdiagnosis using the Xba I polymorphism for prenatal diagnosis of haemophilia A
N S Van de Water1, S J May, P J Browett
1Department of Haematology, Auckland Hospital, New Zealand.
Abstract:
A mother of two haemophilia A sons presented at 7 weeks pregnancy for a prenatal diagnosis. Southern blot analysis of haemophilia DNA at the factor VIII intron 22 Xba I restriction fragment length polymorphism (RFLP) site revealed an Xba I haplotype of A-B+C-. This haplotype has been alluded to but not reported before, and when a 1.6 kb Bst XI fragment of p482.6 is used as a probe the resulting band pattern is similar to that of females heterozygous at site A.
Related Concept Videos
Pedigree Analysis
Multiple Allele Traits
Pleiotropy
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

