Identification of a novel beta O-thalassaemia mutation in a Greek family and subsequent prenatal diagnosis

Autor:	J S, Waye, B, Eng, N F, Olivieri, D H, Chui
Rok vydání:	1994
Předmět:	Male Base Sequence Genetic Carrier Screening Homozygote Molecular Sequence Data beta-Thalassemia Infant DNA Polymerase Chain Reaction Globins Fetal Diseases Pregnancy Prenatal Diagnosis Mutation Humans Female Genetic Testing DNA Primers
Zdroj:	Prenatal diagnosis. 14(10)
ISSN:	0197-3851
Popis:	We present a case in which a Greek couple was considered not to be at risk of having children with homozygous beta-thalassaemia, an assessment based largely on the father's belief that he carried alpha-thalassaemia. After their first child was diagnosed with homozygous beta-thalassaemia, the case was re-assessed and both parents were shown to have the haematological profile of beta-thalassaemia trait. Screening for the common Mediterranean mutations demonstrated that the mother carries the IVS-1 nt 110 G--A beta(+)-thalassaemia mutation. Direct nucleotide sequencing of PCR-amplified DNA revealed that the father carries a novel beta O-thalassaemia mutation, frameshift codons 9/10 (+T). The couple's second pregnancy was terminated after prenatal testing revealed that the fetus had inherited both parental mutations. This case illustrates the need to confirm the carrier status of individuals prior to assessing their genetic risks, and highlights the importance of being able to identify rare or novel beta-thalassaemia mutations.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::92fcb40c6bdd104a6507249b5dbdba37 https://pubmed.ncbi.nlm.nih.gov/7899267 Zobrazit plný text záznamu Plný text