Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B

American Journal of Human Genetics

Volumn 65, Issue 6, 1999, Pages 1572-1579

  Green, P M ^a   Saad, S ^a,c   Lewis, C M ^a   Giannelli, F ^a,b  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC RISK; HEMOPHILIA B; HETEROZYGOTE; HUMAN; MALE; PEDIGREE; POPULATION RESEARCH; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; UNITED KINGDOM; VERTICAL TRANSMISSION;

EID: 0033358669     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302651     Document Type: Article

References (31)

1. Anson DS, Choo KH, Rees DJG, Giannelli F, Gould K, Huddleston JA, Brownlee GG (1984) The gene structure of human anti-haemophilic factor IX. EMBO J 3:1053-1060
2. Becker J, Schwaab R, Möller-Taube A, Schwaab U, Schmidt W, Brackmann HH, Grimm T, et al (1996) Characterization of the factor VIII defect of 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet 58:657-670
3. Chen JX, Zheng Y, West M, Tang M-S (1998) Carcinogens preferentially bind at methylated CpG in the p53 mutational hotspot. Cancer Res 58:2070-2075
4. Giannelli F, Green PM (1996) The molecular basis of haemophilia A and B. In: Lee CA (ed) Baillière's clinical haematology. Vol 9: Haemophilia. Baillière Tindall, London, pp 211-228
5. Giannelli F, Saad S, Anagnostopoulos T, Green PM (1999) Mutation rates in man. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from haemophilia B. Am J Hum Genet 65:1580-1587 (in this issue)
6. Green PM, Bentley DR, Mibashan RS, Nilsson IM, Giannelli F (1989) Molecular pathology of haemophilia B. EMBO J 8:1067-1072
7. Green PM, Montandon AJ, Ljung R, Bentley DR, Nilsson IM, Kling S, Giannelli F (1991) Haemophilia B mutations in a complete Swedish population sample: a test for the new strategy for genetic counselling of diseases with high mutational heterogeneity. Br J Haematol 78:390-397
8. Green PM, Montandon AJ, Ljung R, Nilsson IM, Giannelli F (1992) Haplotype analysis of identical factor IX mutants using PCR. Thromb Haemost 67:66-69
9. Ketterling RP, Vielhaber E, Bottema CDK, Schaid DJ, Cohen MP, Sexaur CL, Sommer SS (1993) Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation. Am J Hum Genet 52:152-166
10. Ketterling RP, Vielhaber E, Sommer SS (1994) The rates of G: C→T:A and G:C→C:G transversions at CpG dinucleotides in the human factor IX gene. Am J Hum Genet 54:831-835
11. Kling S, Ljung R, Sjorin E, Montandon AJ, Green PM, Giannelli F, Nilsson IM (1992) Origin of mutation in sporadic cases of haemophilia B. Eur J Haematol 48:142-145
12. Lakich D, Kazazian HH, Antonarakis SE, Gitschier J (1993) Inversions disrupting the factor VIII gene as a common cause of severe hemophilia A. Nat Genet 5:236-241
13. Larsson SA (1985) Life expectancy of Swedish haemophiliacs 1831-1980. Br J Haematol 59:593-602
14. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
15. Montandon AJ, Green PM, Bentley DR, Ljung R, Kling S, Nilsson IM, Giannelli F (1992) Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden. Hum Genet 89:319-322
16. Montandon AJ, Green PM, Giannelli F, Bentley DR (1989) Direct detection of point mutations by mismatch analysis: application to haemophilia B. Nucleic Acids Res 17: 3347-3358
17. Naylor JA, Brinke A, Hassock S, Green PM, Giannelli F (1993) Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 2:1773-1778
18. Office for National Statistics (1997a) Birth statistics: review of the Registrar General on births and patterns of family building in England and Wales, 1995. Series FM1 no 24. The Stationery Office, London
19. _ (1997b) Table 6, population: age and sex. Popul Trends 89:67
20. Rizza CR (1997) Clinical features and diagnosis of haemophilia, Christmas disease and von Willebrand's disease. In: Rizza CR, Lowe GDO (eds) Haemophilia and other inherited bleeding disorders. WB Saunders, London, pp 87-113
21. Rizza CR, Spooner RJD (1983) Treatment of haemophilia and related disorders in Britain and Northern Ireland during 1976-1980: report on behalf of the directors of haemophilia centres in the United Kingdom. Br J Haematol 286:929-933
22. Rowley G, Saad S, Giannelli F, Green PM (1995) Ultrarapid mutation detection by multiplex solid-phase chemical cleavage. Genomics 30:574-582
23. Saad S, Rowley G, Tagliavacca L, Green PM, Giannelli F, UK Haemophilia Centres (1994) First report on UK database of haemophilia B mutations and pedigrees. Thromb Haemost 71:563-570
24. Sommer SS, Knoll A, Greenberg CR, Ketterling RP (1995) Germline mosaicism in a female who seemed to be a carrier by sequence analysis. Hum Mol Genet 4:2181-2182
25. Taylor SAM, Deugau KV, Lillicrap DP (1991) Somatic mosaicism and female-to-female transmission in a kindred with haemophilia B (factor IX deficiency). Proc Natl Acad Sci USA 88:39-42
26. Tuchman M, Matsuda I, Munnich A, Malcolm S, Strautnieks S, Briede T (1995) Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency. Am J Med Genet 55:67-70
27. van Essen AJ, Abbs S, Baiget M, Bakker E, Bioleau C, van Broeckhoven C, Bushby K, et al (1992) Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. Hum Genet 88:249-257
28. Verpy E, Biasotto M, Meo T, Tosi M (1994) Efficient detection of point mutations on color-coded strands of target DNA. Proc Natl Acad Sci USA 91:1873-1877
29. Winship PR (1989) An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide. Nucleic Acids Res 17:1266
30. Winship PR, Rees DJ, Alkan M (1989) Detection of polymorphisms at cytosine phosphoguanidine dinucleotides and diagnosis of haemophilia B carriers. Lancet 1:631-634
31. Yoshitake G, Schach BG, Foster DC, Davie EW, Kurachi K (1985) Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry 24:3736-3750