先证者;
Family study showed that the father, father's sister and grandmother of the propositus carried the same abnormal hemoglobin. The content of this Hb variant was 10.1~ 15.3% of the total hemoglobin.
家族调查结果显示先证者的父亲、四姑和祖母均携带有相同的异常Hb,这种变异体含量为10.1~15.3%。
By PCR-SSCP analysis, 17 PCR products were identified with different mobility of single strand DNA in propositus. 9 suspectable mutations were revealed with DNA sequencing analysis.
PCR-SSCP分析发现17个外显子PCR产物单链DNA迁移率异常,通过DNA直接测序发现9个外显子可疑突变,但反向测序均未能证实。
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