Sökning: onr:"swepub:oai:lup.lub.lu.se:012acce9-466a-41c2-b625-52fc1540a556" >
Two factor IX mutat...
Two factor IX mutations in the family of an isolated haemophilia B patient : direct carrier diagnosis by amplification mismatch detection (AMD)
-
- Montandon, A J (författare)
- King's College London
-
Green, P M (författare)
-
Bentley, D R (författare)
-
visa fler...
-
- Ljung, R (författare)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Pediatrisk hematologi,Forskargrupper vid Lunds universitet,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Paediatric Haematology Research Unit,Lund University Research Groups
-
Nilsson, Inga Marie (författare)
-
Giannelli, F (författare)
-
visa färre...
-
(creator_code:org_t)
- 1990
- 1990
- Engelska.
-
Ingår i: Human Genetics. - 0340-6717. ; 85:2, s. 4-200
- Relaterad länk:
-
http://dx.doi.org/10...
-
visa fler...
-
https://lup.lub.lu.s...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- Rapid identification of gene defects allows definite carrier and prenatal diagnosis in virtually every family with haemophilia B. We report a study of the family of an isolated patient. Analysis of all the essential regions of the patient's factor IX gene (promoter, exons, transcript processing signals) revealed two mutations: one C----T transition at residue 17762 and another at residue 30890. The former created a translation stop at codon 116, and the latter caused substitution of His 257 by Tyr. The translation stop is an obvious detrimental mutation, while the His 257----Tyr substitution has uncertain functional consequences. From analysis of other family members, it was found that the first mutation had occurred at grandpaternal gametogenesis, in keeping with the negative family history, while the second was of more remote origin and did not reduce the maternal grandfather's factor IX coagulant and antigen level. This neutral mutation (His 257----Tyr) pinpoints a poorly conserved amino acid in factor IX and related serine proteases. Its coexistence with a detrimental mutation stresses the need to examine all essential regions of a gene before attempting to interpret the functional consequences of its sequence changes.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
Nyckelord
- Antigens
- Base Sequence
- Child, Preschool
- Codon
- Exons
- Factor IX
- Hemophilia B
- Heterozygote Detection
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Amplification Techniques
- Pedigree
- Polymerase Chain Reaction
- Case Reports
- Journal Article
- Research Support, Non-U.S. Gov't
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
Hitta via bibliotek
Till lärosätets databas