J. Old
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
J. Old has a total of 20 co-authors. Here are the top co-authors by number of shared publications:
- Bernadette Modell
Department of Primary Care and Population Sciences, UCL Medical School, London, UK
2 shared publications Baldip Khan
1 shared publicationChristopher Fisher
National Haemoglobinopathy Reference Laboratory, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DS, UK
1 shared publicationFaizeh Al-Quobaili
Department of Molecular Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
1 shared publicationIshwar Verma
Department of Genetic Medicine, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, 110 060, India
1 shared publicationKyriacos Kyriacou
Department of Molecular Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
1 shared publication
Latest Publications
- 1 January 2001
- Published by Taylor & Francis in Hemoglobin
- Vol. 25 (4) , 397-407
A MULTI-CENTER STUDY IN ORDER TO FURTHER DEFINE THE MOLECULAR BASIS OF β-THALASSEMIA IN THAILAND, PAKISTAN, SRI LANKA, MAURITIUS, SYRIA, AND INDIA, AND TO DEVELOP A SIMPLE MOLECULAR DIAGNOSTIC STRATEGY BY AMPLIFICATION REFRACTORY MUTATION SYSTEM-POLYMERASE CHAIN REACTION
The spectrum of the β-thalassemia mutations of Thailand, Pakistan, India, Sri Lanka, Mauritius and Syria has been further characterized by a multi-center study of 1,235 transfusion-dependent patients, and the mutations discovered used to assess the fidelity of a simple diagnostic strategy. A total of 44 β-thalassemia mutations were identified either by allele-specific oligonucleotide hybridization, amplification with allele-specific primers, or DNA sequencing of amplified product. The results confirm and extend earlier findings for Thailand, Pakistan, India, Mauritius and Syria. This is the first detailed report of the spectrum of mutations for Sri Lanka. Two novel mutations were identified, codon 55 (−A) and IVS-I-129 (A → C), both found in Sri Lankan patients. Two β-thalassemia mutations were found to coexist in one β-globin gene: Sri Lankan patients homozygous for the β0 codon 16 (−C) frameshift were also homozygous for the β+ codon 10 (C → A) mutation. Studies of Sri Lankan, Pakistani, and Indian carr...
- 1 January 2001
- Published by Taylor & Francis in Hemoglobin
- Vol. 25 (4) , 397-407
A MULTI-CENTER STUDY IN ORDER TO FURTHER DEFINE THE MOLECULAR BASIS OF β-THALASSEMIA IN THAILAND, PAKISTAN, SRI LANKA, MAURITIUS, SYRIA, AND INDIA, AND TO DEVELOP A SIMPLE MOLECULAR DIAGNOSTIC STRATEGY BY AMPLIFICATION REFRACTORY MUTATION SYSTEM-POLYMERASE CHAIN REACTION
The spectrum of the β-thalassemia mutations of Thailand, Pakistan, India, Sri Lanka, Mauritius and Syria has been further characterized by a multi-center study of 1,235 transfusion-dependent patients, and the mutations discovered used to assess the fidelity of a simple diagnostic strategy. A total of 44 β-thalassemia mutations were identified either by allele-specific oligonucleotide hybridization, amplification with allele-specific primers, or DNA sequencing of amplified product. The results confirm and extend earlier findings for Thailand, Pakistan, India, Mauritius and Syria. This is the first detailed report of the spectrum of mutations for Sri Lanka. Two novel mutations were identified, codon 55 (−A) and IVS-I-129 (A → C), both found in Sri Lankan patients. Two β-thalassemia mutations were found to coexist in one β-globin gene: Sri Lankan patients homozygous for the β0 codon 16 (−C) frameshift were also homozygous for the β+ codon 10 (C → A) mutation. Studies of Sri Lankan, Pakistani, and Indian carr...
- 5 December 2000
- Published by Wiley in Prenatal Diagnosis
- Vol. 20 (12) , 986-991
Accuracy of prenatal diagnosis for haemoglobin disorders in the UK: 25 years' experience
- 5 December 2000
- Published by Wiley in Prenatal Diagnosis
- Vol. 20 (12) , 986-991
Accuracy of prenatal diagnosis for haemoglobin disorders in the UK: 25 years' experience
- 1 December 2000
- Vol. 20 (12) , 986-91
Accuracy of prenatal diagnosis for haemoglobin disorders in the UK: 25 years' experience.
We have reviewed the accuracy of prenatal diagnosis for the thalassaemias and sickle cell disorders performed for UK residents since the service began in 1974. Prenatal diagnosis has been performed in 3254 pregnancies: 517 by fetal blood analysis, 681 by Southern blotting and 2056 by polymerase chain reaction (PCR) methods, the majority using the amplification refractory mutation system (ARMS). The number of homozygotes diagnosed was 808 (24.8%). Twenty-five diagnostic errors have been recorded, ten arising from non-laboratory errors (0.31%) and 15 due to technical problems associated with the diagnostic techniques. The latter group consisted of eight misdiagnoses by globin chain synthesis (1.55%), five by Southern blot analysis (0.73%) and two by PCR methods (0. 10%). The data show that the accuracy of prenatal diagnosis has improved with each development of diagnostic technique, and confirms that prenatal diagnosis of beta-thalassaemia and sickle cell disorders by ARMS-PCR is very accurate and reliable. The overall error rate for prenatal diagnosis by PCR methods in the UK is now 0. 41%.
- 1 December 2000
- Vol. 20 (12) , 986-91
Accuracy of prenatal diagnosis for haemoglobin disorders in the UK: 25 years' experience.
We have reviewed the accuracy of prenatal diagnosis for the thalassaemias and sickle cell disorders performed for UK residents since the service began in 1974. Prenatal diagnosis has been performed in 3254 pregnancies: 517 by fetal blood analysis, 681 by Southern blotting and 2056 by polymerase chain reaction (PCR) methods, the majority using the amplification refractory mutation system (ARMS). The number of homozygotes diagnosed was 808 (24.8%). Twenty-five diagnostic errors have been recorded, ten arising from non-laboratory errors (0.31%) and 15 due to technical problems associated with the diagnostic techniques. The latter group consisted of eight misdiagnoses by globin chain synthesis (1.55%), five by Southern blot analysis (0.73%) and two by PCR methods (0. 10%). The data show that the accuracy of prenatal diagnosis has improved with each development of diagnostic technique, and confirms that prenatal diagnosis of beta-thalassaemia and sickle cell disorders by ARMS-PCR is very accurate and reliable. The overall error rate for prenatal diagnosis by PCR methods in the UK is now 0. 41%.