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Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal X chromosome

Kling, S. LU ; Coffey, A. J.; Ljung, R. LU ; Sjörin, Elsy LU ; Nilsson, Inga Marie; Holmberg, L. LU and Giannelli, F. (1991) In European Journal of Haematology 47(4). p.257-261
Abstract

The case of a female with moderate haemophilia B is reported. She is the only affected member of her family, and factor IX RFLP analysis shows her to have inherited no maternal markers for polymorphisms located in the first intron and 8 Kb 3' of the polyadenylation signal (DdeI and HhaI, respectively). This clearly indicates a deletion involving at least the last 7 exons of the factor IX gene. Her other factor IX gene inherited from her healthy father is normal as her son is also healthy. This suggests the patient's haemophilia to be due to gross bias in the proportion of factor IX-producing cells with an inactive paternal X chromosome. Methylation studies on the 5' region of the PGK gene show that virtually all the patient's... (More)

The case of a female with moderate haemophilia B is reported. She is the only affected member of her family, and factor IX RFLP analysis shows her to have inherited no maternal markers for polymorphisms located in the first intron and 8 Kb 3' of the polyadenylation signal (DdeI and HhaI, respectively). This clearly indicates a deletion involving at least the last 7 exons of the factor IX gene. Her other factor IX gene inherited from her healthy father is normal as her son is also healthy. This suggests the patient's haemophilia to be due to gross bias in the proportion of factor IX-producing cells with an inactive paternal X chromosome. Methylation studies on the 5' region of the PGK gene show that virtually all the patient's lymphocytes carry a hypermethylated and presumably an inactive paternal X chromosome. The reason for this bias in the activity of her two X chromosomes is not clear, as no chromosomal alterations were found.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
European Journal of Haematology
volume
47
issue
4
pages
257 - 261
publisher
Wiley-Blackwell
external identifiers
  • Scopus:0026044788
ISSN
0902-4441
DOI
10.1111/j.1600-0609.1991.tb01568.x
language
English
LU publication?
yes
id
d97c38fc-b670-4b26-8550-4b17a7fe86f9
date added to LUP
2016-11-08 15:04:28
date last changed
2016-11-21 10:12:11
@misc{d97c38fc-b670-4b26-8550-4b17a7fe86f9,
  abstract     = {<p>The case of a female with moderate haemophilia B is reported. She is the only affected member of her family, and factor IX RFLP analysis shows her to have inherited no maternal markers for polymorphisms located in the first intron and 8 Kb 3' of the polyadenylation signal (DdeI and HhaI, respectively). This clearly indicates a deletion involving at least the last 7 exons of the factor IX gene. Her other factor IX gene inherited from her healthy father is normal as her son is also healthy. This suggests the patient's haemophilia to be due to gross bias in the proportion of factor IX-producing cells with an inactive paternal X chromosome. Methylation studies on the 5' region of the PGK gene show that virtually all the patient's lymphocytes carry a hypermethylated and presumably an inactive paternal X chromosome. The reason for this bias in the activity of her two X chromosomes is not clear, as no chromosomal alterations were found.</p>},
  author       = {Kling, S. and Coffey, A. J. and Ljung, R. and Sjörin, Elsy and Nilsson, Inga Marie and Holmberg, L. and Giannelli, F.},
  issn         = {0902-4441},
  language     = {eng},
  number       = {4},
  pages        = {257--261},
  publisher    = {ARRAY(0xb818000)},
  series       = {European Journal of Haematology},
  title        = {Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal X chromosome},
  url          = {http://dx.doi.org/10.1111/j.1600-0609.1991.tb01568.x},
  volume       = {47},
  year         = {1991},
}