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March 18, 1992, Vol 267, No. 11 >
ARTICLE | March 18, 1992

Development of DNA Analysis for Human Diseases: Title and subTitle BreakSickle Cell Anemia and Thalassemia as a Paradigm FREE

Yuet Wai Kan, MD, DSc, FRCP, FRS
[+] Author Affiliations

The 1991 Albert Lasker Medical Award was presented to Dr Kan on September 27,1991, in New York City.

Reprint requests to University of California, Third and Parnassus avenues, U-426, San Francisco, CA 94143-0724 (Dr Kan).


JAMA. 1992;267(11):1532-1536. doi:10.1001/jama.1992.03480110124043
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Article
References

REFERENCES

1 +
Kan YW, Golbus MS, Klein P, Dozy AM.  Successful application of prenatal diagnosis in a pregnancy at risk for homozygous β-thalassemia. N Engl J Med . 1975;;292:1096-1099.
2 +
Kan YW, Golbus MS, Trecartin R.  Prenatal diagnosis of sickle cell anemia. N Engl J Med . 1976;; 294:1039-1040.
3 +
Alter BP, Friedman S, Hobbins JC, et al.  Prenatal diagnosis of sickle cell anemia and alpha G-Philadelphia. N Engl J Med . 1976;;294:1040-1041.
4 +
Baltimore D.  RNA-dependent DNA polymerase in virions of RNA tumor viruses. Nature . 1970;;226:1209-1211.
5 +
Temin HM, Mizutani S.  RNA-dependent DNA polymerase in virions of Rous sarcoma virus. Nature . 1970;;226:1211-1213.
6 +
Levin RM, Efstraditiadis A, O'Connell C, Maniatis T.  The nucleotide sequence of the human β-globin gene. Cell . 1980;;21:647-651.
7 +
Ottolenghi S, Lanyon WG, Paul J, et al.  Gene deletion as a cause of α-thalassemia. Nature . 1974;;251:389-392.
8 +
Taylor JM, Dozy AM, Kan YW, et al.  Genetic lesion in homozygous α-thalassemia (hydrops fetalis). Nature . 1974;;251:392-393.
9 +
Kan YW, Dozy AM, Varmus HE, et al.  Deletion of α-globin genes in haemoglobin-H disease demonstrates multiple α-globin structural loci. Nature . 1975;; 292:1096-1099.
10 +
Dozy AM, Kan YW, Embury SH, et al.  Alpha globin gene organization in blacks precludes the severe form of α-thalassemia. Nature . 1979;;280:605-607.
11 +
Wasi P.  The alpha thalassemia genes. J Med Assoc Thai . 1970;;53:677-686.
12 +
Hill AV, Bowden DK, Trent RJ, et al.  Melanesians and Polynesians share a unique alpha-thalassemia mutation. Am J Hum Genet . 1985;;37:571-580.
13 +
Lie-Injo LE, Jo Bwan H.  Hydrops foetalis with fast moving hemoglobin. BMJ . 1960;;2:1649-1651.
14 +
Beaudry MA, Yanofsky RA, Rubin EM, et al.  Survival of a hydropic infant with homozygous α-thalassemia. J Pediatr . 1986;;108:713-716.
15 +
Kan YW, Golbus MS, Dozy AM.  Prenatal diagnosis of α-thalassemia: clinical application of molecular hybridization. N Engl J Med . 1976;;295:1165-1167.
16 +
Southern EM.  Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol . 1975;;98:503-517.
17 +
Kan YW, Dozy AM.  Polymorphism of DNA sequence adjacent to human β-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A . 1978;;75:5631-5635.
18 +
Kan YW.  Hemoglobin abnormalities: molecular and evolutionary studies.  In: The Harvey Lectures . New York, NY: Academic Press Inc; 1982;:75-93. Series 76.
19 +
Kan YW, Dozy AM.  Antenatal diagnosis of sickle cell anemia by DNA analysis of amniotic-fluid cells. Lancet . 1978;;2:910-912.
20 +
Antonarakis SE, Boehm CD, Giadina PJV, Kazazian HH Jr.  Non-random association of polymorphic restriction sites in the β-globin gene cluster. Proc Nati Acad Sci USA . 1982;;79:137-141.
21 +
Orkin SH, Kazazian HH Jr, Antonarakis SE, et al.  Linkage of β-thalassemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature . 1982;;296:627-631.
22 +
Kazazian HH Jr.  The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990. Semin Hematol . 1990;;27:209-228.
23 +
Kan YW, Dozy AM.  Evolution of the hemoglobin S and C genes in world populations. Science . 1980;; 209:388-391.
24 +
Nagel RL, Ranney HM.  Genetic epidemiology of structural mutations of the β-globin gene. Semin Hematol . 1990;;27:342-359.
25 +
Okano Y, Eisensmith RC, Guttler F, et al.  Molecular basis of phenotypic heterogeneity in phenylketonuria. N Engl J Med . 1991;;324:1232-1238.
26 +
Cann RL, Stoneking M, Wilson AC.  Mitochondrial DNA and human evolution. Nature . 1987;;325:31-36.
27 +
Kurnit DM.  Evolution of sickle variant gene. Lancet . 1979;;1:104.
28 +
Solomon E, Bodmer WF.  Evolution of sickle variant gene. Lancet . 1979;;1:923.
29 +
Botstein D, White RL, Skolnick M, Davis RW.  Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet . 1980;;32:314-331.
30 +
Gusella JF, Wexler NS, Conneally PM, et al.  A polymorphic DNA marker genetically linked to the Huntington's disease. Nature . 1983;;306:234-238.
31 +
Monaco AP, Neve RL, Colletti-Feener C, et al.  Isolation of candidate cDNAs for portion of the Duchenne muscular dystrophy gene. Nature . 1986;;323:646-650.
32 +
Riordan JR, Rommens JM, Kerem BS, et al.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science . 1989;;245:1066-1073.
33 +
Cawthon R, Weiss R, Xu G, et al.  A major segment of the neurofibromatosis type 1 gene: cDNA seqence, genomic structure and point mutations. Cell . 1990;;62:193-201.
34 +
Ballester R, Marchuk D, Boguski M, et al.  The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell . 1990;;63:851-859.
35 +
Chang JC, Kan YW.  A sensitive test for prenatal diagnosis of sickle cell anemia: direct analysis of amniocyte DNA with MstII. Trans Assoc Am Physicians . 1982;;95:71-78.
36 +
Conner BJ, Reye AA, Morin C, Itakura K, Teplitz RL, Wallace RB.  Detection of sickle cell YS allele by hybridization with synthetic oligonucleotides. Proc Natl Acad Sci U S A . 1983;;80:278-282.
37 +
Cai SP, Chang CA, Zhang JZ, Saiki RK, Erlich HA, Kan YW.  Rapid prenatal diagnosis of γ-thalassemia using DNA amplification and nonradioactive probes. Blood . 1989;;73:372-374.
38 +
Saiki RK, Scharf S, Faloona F, et al.  Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science . 1985;;230:1350-1354.
39 +
Cao A, Rosatelli MC, Leoni GB, et al.  Antenatal diagnosis of γ-thalassemia in Sardinia. Ann N Y Acad Sci . 1990;;612:215-225.
40 +
Loukopoulos D, Hadji A, Papadakis M, et al.  Prenatal diagnosis of thalassemia and of the sickle cell syndromes in Greece. Ann N Y Acad Sci . 1990;;612:215-225.
41 +
Thomas KR, Capecchi MR.  Targeted disruption of the murine int-1 proto-oncogene resulting in severe abnormalities in midbrain and cerebellar development. Nature . 1990;;346:847-850.
42 +
Shesely EG, Kim HS, Shehee WR, Papayannopoulou T, Smithies O, Popovich BW.  Correction of a human β S-globin gene by gene targeting. Proc Natl Acad Sci U S A . 1991;;88:4294-4298.
43 +
Ryan TM, Townes TM, Reilly MP, et al.  Human sickle hemoglobin in transgenic mice. Science . 1990;;247:566-568.
44 +
Rubin EM, Witkowska E, Spangler E, et al.  Hypoxia-induced in vivo sickling of transgenic mouse red cells. J Clin Invest . 1991;;87:639-647.
45 +
Culver KW, Anderson WF, Blaese RM.  Lymphocyte gene therapy. Hum Gene Ther . 1991;;2:107-109.

Figures

Tables

Interactive Graphics

Video

Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

1 +
Kan YW, Golbus MS, Klein P, Dozy AM.  Successful application of prenatal diagnosis in a pregnancy at risk for homozygous β-thalassemia. N Engl J Med . 1975;;292:1096-1099.
2 +
Kan YW, Golbus MS, Trecartin R.  Prenatal diagnosis of sickle cell anemia. N Engl J Med . 1976;; 294:1039-1040.
3 +
Alter BP, Friedman S, Hobbins JC, et al.  Prenatal diagnosis of sickle cell anemia and alpha G-Philadelphia. N Engl J Med . 1976;;294:1040-1041.
4 +
Baltimore D.  RNA-dependent DNA polymerase in virions of RNA tumor viruses. Nature . 1970;;226:1209-1211.
5 +
Temin HM, Mizutani S.  RNA-dependent DNA polymerase in virions of Rous sarcoma virus. Nature . 1970;;226:1211-1213.
6 +
Levin RM, Efstraditiadis A, O'Connell C, Maniatis T.  The nucleotide sequence of the human β-globin gene. Cell . 1980;;21:647-651.
7 +
Ottolenghi S, Lanyon WG, Paul J, et al.  Gene deletion as a cause of α-thalassemia. Nature . 1974;;251:389-392.
8 +
Taylor JM, Dozy AM, Kan YW, et al.  Genetic lesion in homozygous α-thalassemia (hydrops fetalis). Nature . 1974;;251:392-393.
9 +
Kan YW, Dozy AM, Varmus HE, et al.  Deletion of α-globin genes in haemoglobin-H disease demonstrates multiple α-globin structural loci. Nature . 1975;; 292:1096-1099.
10 +
Dozy AM, Kan YW, Embury SH, et al.  Alpha globin gene organization in blacks precludes the severe form of α-thalassemia. Nature . 1979;;280:605-607.
11 +
Wasi P.  The alpha thalassemia genes. J Med Assoc Thai . 1970;;53:677-686.
12 +
Hill AV, Bowden DK, Trent RJ, et al.  Melanesians and Polynesians share a unique alpha-thalassemia mutation. Am J Hum Genet . 1985;;37:571-580.
13 +
Lie-Injo LE, Jo Bwan H.  Hydrops foetalis with fast moving hemoglobin. BMJ . 1960;;2:1649-1651.
14 +
Beaudry MA, Yanofsky RA, Rubin EM, et al.  Survival of a hydropic infant with homozygous α-thalassemia. J Pediatr . 1986;;108:713-716.
15 +
Kan YW, Golbus MS, Dozy AM.  Prenatal diagnosis of α-thalassemia: clinical application of molecular hybridization. N Engl J Med . 1976;;295:1165-1167.
16 +
Southern EM.  Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol . 1975;;98:503-517.
17 +
Kan YW, Dozy AM.  Polymorphism of DNA sequence adjacent to human β-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A . 1978;;75:5631-5635.
18 +
Kan YW.  Hemoglobin abnormalities: molecular and evolutionary studies.  In: The Harvey Lectures . New York, NY: Academic Press Inc; 1982;:75-93. Series 76.
19 +
Kan YW, Dozy AM.  Antenatal diagnosis of sickle cell anemia by DNA analysis of amniotic-fluid cells. Lancet . 1978;;2:910-912.
20 +
Antonarakis SE, Boehm CD, Giadina PJV, Kazazian HH Jr.  Non-random association of polymorphic restriction sites in the β-globin gene cluster. Proc Nati Acad Sci USA . 1982;;79:137-141.
21 +
Orkin SH, Kazazian HH Jr, Antonarakis SE, et al.  Linkage of β-thalassemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature . 1982;;296:627-631.
22 +
Kazazian HH Jr.  The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990. Semin Hematol . 1990;;27:209-228.
23 +
Kan YW, Dozy AM.  Evolution of the hemoglobin S and C genes in world populations. Science . 1980;; 209:388-391.
24 +
Nagel RL, Ranney HM.  Genetic epidemiology of structural mutations of the β-globin gene. Semin Hematol . 1990;;27:342-359.
25 +
Okano Y, Eisensmith RC, Guttler F, et al.  Molecular basis of phenotypic heterogeneity in phenylketonuria. N Engl J Med . 1991;;324:1232-1238.
26 +
Cann RL, Stoneking M, Wilson AC.  Mitochondrial DNA and human evolution. Nature . 1987;;325:31-36.
27 +
Kurnit DM.  Evolution of sickle variant gene. Lancet . 1979;;1:104.
28 +
Solomon E, Bodmer WF.  Evolution of sickle variant gene. Lancet . 1979;;1:923.
29 +
Botstein D, White RL, Skolnick M, Davis RW.  Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet . 1980;;32:314-331.
30 +
Gusella JF, Wexler NS, Conneally PM, et al.  A polymorphic DNA marker genetically linked to the Huntington's disease. Nature . 1983;;306:234-238.
31 +
Monaco AP, Neve RL, Colletti-Feener C, et al.  Isolation of candidate cDNAs for portion of the Duchenne muscular dystrophy gene. Nature . 1986;;323:646-650.
32 +
Riordan JR, Rommens JM, Kerem BS, et al.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science . 1989;;245:1066-1073.
33 +
Cawthon R, Weiss R, Xu G, et al.  A major segment of the neurofibromatosis type 1 gene: cDNA seqence, genomic structure and point mutations. Cell . 1990;;62:193-201.
34 +
Ballester R, Marchuk D, Boguski M, et al.  The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell . 1990;;63:851-859.
35 +
Chang JC, Kan YW.  A sensitive test for prenatal diagnosis of sickle cell anemia: direct analysis of amniocyte DNA with MstII. Trans Assoc Am Physicians . 1982;;95:71-78.
36 +
Conner BJ, Reye AA, Morin C, Itakura K, Teplitz RL, Wallace RB.  Detection of sickle cell YS allele by hybridization with synthetic oligonucleotides. Proc Natl Acad Sci U S A . 1983;;80:278-282.
37 +
Cai SP, Chang CA, Zhang JZ, Saiki RK, Erlich HA, Kan YW.  Rapid prenatal diagnosis of γ-thalassemia using DNA amplification and nonradioactive probes. Blood . 1989;;73:372-374.
38 +
Saiki RK, Scharf S, Faloona F, et al.  Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science . 1985;;230:1350-1354.
39 +
Cao A, Rosatelli MC, Leoni GB, et al.  Antenatal diagnosis of γ-thalassemia in Sardinia. Ann N Y Acad Sci . 1990;;612:215-225.
40 +
Loukopoulos D, Hadji A, Papadakis M, et al.  Prenatal diagnosis of thalassemia and of the sickle cell syndromes in Greece. Ann N Y Acad Sci . 1990;;612:215-225.
41 +
Thomas KR, Capecchi MR.  Targeted disruption of the murine int-1 proto-oncogene resulting in severe abnormalities in midbrain and cerebellar development. Nature . 1990;;346:847-850.
42 +
Shesely EG, Kim HS, Shehee WR, Papayannopoulou T, Smithies O, Popovich BW.  Correction of a human β S-globin gene by gene targeting. Proc Natl Acad Sci U S A . 1991;;88:4294-4298.
43 +
Ryan TM, Townes TM, Reilly MP, et al.  Human sickle hemoglobin in transgenic mice. Science . 1990;;247:566-568.
44 +
Rubin EM, Witkowska E, Spangler E, et al.  Hypoxia-induced in vivo sickling of transgenic mouse red cells. J Clin Invest . 1991;;87:639-647.
45 +
Culver KW, Anderson WF, Blaese RM.  Lymphocyte gene therapy. Hum Gene Ther . 1991;;2:107-109.

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