Carrier detection and prenatal diagnosis of hemophilla A in a Korean population by PCR-based analysis of the BclI/intron 18 and St14 VNTR polymorphisms

Journal of Human Genetics

Volumn 45, Issue 4, 2000, Pages 218-223

  Choi, Young Min ^a   Hwang, Doyeong ^b   Choe, Jin ^a   Jun, Jong Kwan ^a   Kim, Eun Joo ^c   Moon, Shin Yong ^a   Cho, Sechin ^d  

^a Seoul National University   (South Korea)

^b Hamchoon Women's Clinic   (South Korea)

^c Korean Hemophilia Foundation Clinic   (South Korea)

^d UNIVERSITY OF KANSAS SCHOOL OF MEDICINE WICHITA   (United States)

Author keywords

Carrier detection; Cordocentesis; DNA polymorphism; Hemophilia A; Polymerase chain reaction; Prenatal diagnosis

Indexed keywords

BLOOD CLOTTING FACTOR 8; DNA;

ARTICLE; CORDOCENTESIS; DISEASE CARRIER; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; HEMOPHILIA A; HETEROZYGOSITY; HETEROZYGOTE DETECTION; HUMAN; INTRON; KOREA; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; VARIABLE NUMBER OF TANDEM REPEAT;

EID: 0008241274     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380070030     Document Type: Article

References (23)

1. Chan V, Chan TK, Liu VW, Wong AC (1988) Restriction fragment length polymorphisms associated with factor VIII:C gene in Chinese. Hum Genet 79:128-131
2. Forestier F, Cox WL, Daffos F, Rainaut M (1988) The assessment of fetal blood samples. Am J Obstet Gynecol 158:1184-1188
3. Gitschier J, Drayna D, Tuddenham EG, White RL, Lawn RM (1985) Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene. Nature 314:738-740
4. Gitschier J, Kogan S, Diamond C, Levinson B (1991) Genetic basis of hemophilia A. Thromb Haemost 66:37-39
5. Graham JB, Kunkel GR, Fowlkes DM, Lord ST (1990) The utility of a HindIII polymorphism of factor VIII examined by rapid DNA analysis. Br J Haematol 76:75-79
6. Janco RL, Phillips JA 3rd, Orlando PJ, Davies KE, Old J, Antonarakis SE (1986) Carrier testing strategy in haemophilia A. Lancet I:148-149
7. Janco RL, Phillips JA 3rd, Orlando PJ, Woodard MJ, Wion KL, Lawn RM (1987) Detection of hemophilia A carriers using intragenic factor VIII:C DNA polymorphisms. Blood 69:1539-1541
8. Kogan SC, Doherty M, Gitschier J (1987) An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A. N Engl J Med 317:985-990
9. Lakich D, Kazazian HH, Antonarakis SE, Gitschier J (1993) Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genet 5:236-241
10. Lalloz MRA, McVey JH, Pattinson JK, Tuddenham EGD (1991) Hemophila A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene. Lancet 338:207-211
11. Mibashan RS, Rodeck CH, Thumpston JK, Edwards RJ, Singer JD, White JM, Campbell S (1979) Plasma assay of fetal factors VIIIC and IX for prenatal diagnosis of haemophilia. Lancet I:1309-1311
12. Mibashan RS, Peake IR, Rodeck CH, Thumpston JK, Furlong RA, Gorer R, Bains L, Bloom AL (1980) Dual diagnosis of prenatal haemophilia A by measurement of fetal factor VIIIC and VIIIC antigen (VIIIcAg). Lancet II:994-997
13. Oberle I, Camerino G, Heilig R, Grunebaum L, Cazenave JP, Crapanzano C, Mannucci PM, Mandel JL (1985) Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe. N Engl J Med 312:682-686
14. Pecorara M, Casarino L, Mori PG, Morfini M, Mancuso G, Scrivano AM, Boeri E, Molinari AC, De Biasi R, Ciavarella N, Bencivelli F, Ripa T, Barbujani G, Loi A, Perseu L, Cao A, Pirastu M (1987) Hemophilia A: carrier detection and prenatal diagnosis by DNA analysis. Blood 70:531-535
15. Pieneman WC, Deutz-Terlouw PP, Reitsma PH, Briet E (1995) Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients. Br J Haematol 90:442-449
16. Richards B, Heilig R, Oberle I, Storjohann L, Horn GT (1991) Rapid PCR analysis of the St14(DXS52) VNTR. Nucleic Acids Res 19:1944-1944
17. Salle CDL, Wu Q, Baas MJ, Hanauer A, Ruan C, Cazenave JP (1990) Common intragenic and extragenic polymorphisms of blood coagulation factors VIII and IX are different in Chinese and Caucasians populations. Clin Genet 38:434-440
18. Sambrook J, Fritsch EF, Maniatis T (1989) Moleclar cloning: a laboratory manual, 2nd edn. Cold Spring Harbor Laboratory Press, New York
19. Sarkar G, Evans MI, Kogan S, Lusher J, Sommer SS (1989) Accurate prenatal diagnosis with novel polymerase chain reaction primers in a family with sporadic hemophilia A. Obstet Gynecol 74:414-417
20. Suehiro K, Tanimoto M, Hamaguchi M, Kojima T, Takamatsu J, Ogata K, Kamiya T, Saito H (1988) Carrier detection in Japanese hemophilia A by use of three intragenic and two extragenic factor VIII DNA probes: a study of 24 kindreds. J Lab Clin Med 112:314-318
21. Wang X, Chu X, Ruan C (1995) St14 (DXS52) VNTR in the Chinese population and its application to genetic diagnosis of haemophilia A. Nouv Rev Fr Hematol 37:183-186
22. Windsor S, Taylor SA, Lillicrap D (1994) Multiplex analysis of two intragenic microsatellite repeat polymorphisms in the genetic diagnosis of haemophilia A. Br J Haematol 86:810-815
23. Wion KL, Tudenham EGD, Lawn RM (1986) A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A. Nucleic Acids Res 14:4535-1542