摘要
目的 探讨地中海贫血(地贫)及地贫合并G6PD缺陷症的G6PD活,睦范围,提高女性地贫合并G6PD缺陷者的诊断率。方法 用GAP-PCR法检测α-THAL基因:反向点杂交(RDB)法检测β-THAL基因及家系来验证用电泳法发现的各种地贫;用G6PD/6PGD酶直接比值法(紫外比值法)及家系来确诊G6PD缺陷症。结果 重型β地贫、HBH病、轻型β、轻型α地贫的G6PD活性分别是正常人的3倍以上、2-3倍、2倍、1.5倍;地贫合并G6PD缺陷的女性杂合子62%以上G6PD活性在正常范围。结论 1.地贫合并G6PD缺陷的女性杂合子,若单纯检测G6PD活性,漏诊达62%。用紫外比值法90%可以检出;2.部分地贫合并G6PD缺陷症的女性杂合子,如果G6PD/6PGD比值结果在1.01-1.06之间,做家系G6PD检测或基因检测。可避免漏诊。
Objective: Discuss the activity range of G6PD in thalassemia combinded with G6PD deficiency, to reduce the mistake in diagnosis from the result. Methods. Use GAP - PCR to test α - THAL gene and reverse dot - blotting to test β - THAL gene to confirm thalassemia that well discovered by electrophoresis; use G6PD/6PGD ratio to confirm G6PD deficience. Results: The activity of the G6PD in cooley's anemia hemoglobin H disease β - thalassemia minor, α - thalassemia minor is 3, 2 -3, 2, 1.5 times higher than normal More than 62% G6PD activity are in normal range in female heterogy goto with thalassemia eombinded with G6PD deficiency. Conclusion: 1. Diagnosing G6PD deficiency use only the activity of G6PD in women paticnt is low efficiency; Use UV spectrophotometer, the rate of diagnosis is 90%. 2. If the rate of G6PD/6PGD between 1.01 - 1.06, the patient should go to take the genealogy gene survey or gene test.
出处
《中国优生与遗传杂志》
2006年第5期28-30,共3页
Chinese Journal of Birth Health & Heredity
关键词
地贫
合并
G6PD
实验研究
Thalassemia
Combined with G6PD, Laboratory diagnosis