Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism

Wieland, Kerstin, Millar, David Stuart, Grundy, Catherine B., Mibashan, Reuben S., Kakkar, Vijay V. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 1991. Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism. Human Genetics 86 (3) , pp. 273-278. 10.1007/BF00202408

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Abstract

A case of homozygous factor X deficiency arising from the inheritance of two non-identical gene deletions from heterozygous parents is described. One, a partial gene deletion, was localized to exons VII and VIII by a combination of Southern blotting and polymerase chain reaction (PCR) amplification of exon sequences. The other deletion, of maternal origin, probably involves the entire factor X gene. Restriction fragments associated with the exon VII + VIII deletion were present in three siblings including the homozygous proband. These fragments were however absent from the somatic cells of the father, a finding consistent with germline mosaicism.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Springer
ISSN:	0340-6717
Last Modified:	06 May 2023 01:16
URI:	https://orca.cardiff.ac.uk/id/eprint/63396

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