期刊
HEMOGLOBIN
卷 31, 期 3, 页码 397-400出版社
TAYLOR & FRANCIS INC
DOI: 10.1080/03630260701459432
关键词
deletional type; beta-thalassemia (thal); polymerase chain reaction (PCR); reverse dot-blot
We present the case of a child in whom beta-thalassemia (thal) major was apparently caused by homozyg-osity for a 4-base deletion mutation [codons 41/42 (-TTCT)] of the beta-globin gene. However, the mutation was not identified in the father. The presence of a deletional beta-thal was detected by long-range polymerase chain reaction (PCR). We emphasize that the mutations found in the patient should always be confirmed to be present in both parents before molecular analysis is employed for clinical purposes.
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