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- W2129604597 abstract "The most common Hb D variant, Haemoglobin D (Hb D) Los Angeles is caused by a glutamic acid to glutamine substitution at codon 121 of the β globin gene. Although asymptomatic in the heterozygous form, inheritance together with an Hb S allele can result in a severe disease similar to sickle-cell anaemia that is referred to as Hb SD disease. Prenatal diagnosis for Hb SD disease was requested by an at-risk couple of Irish/English descent. Prenatal diagnosis was performed on DNA isolated from chorionic villi at 12 weeks' gestation using dot blot and allele-specific oligonucleotide hybridization for the HbS mutation, and two independent approaches, restriction fragment analysis and ARMS (amplification refractory mutation system) for the detection of the Hb D Los Angeles mutation. The fetus was found to be heterozygous for the HbS mutation, but did not inherit the HbD mutation. Thus, a reliable and rapid prenatal diagnosis for the Hb SD disease can be achieved by molecular diagnosis. Copyright © 1999 John Wiley & Sons, Ltd." @default.
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- W2129604597 date "1999-01-01" @default.
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- W2129604597 title "Molecular exclusion of haemoglobin SD disease by prenatal diagnosis" @default.
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- W2129604597 doi "https://doi.org/10.1002/(sici)1097-0223(199901)19:1<58::aid-pd453>3.0.co;2-1" @default.
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