CAJ | 학술논문

目的：探讨孕前优生健康检查中新婚待育夫妇地中海贫血筛查在出生缺陷干预应用中的意义，为预防和减少地贫病患儿的出生提供依据。方法双方均为潮汕平原地区户籍的孕前优生健康检查对象12092例，所有样品均采用MCV法进行初筛，以静脉血平均红细胞体积（MCV≤80fL）作为诊断地贫的阳性参考指标。再应用Gap-PCR和反向点杂交技术（RDB-PCR）对部分样品进行α地贫基因和β地贫基因定型。结果在1679例（MCV≤80fL）血标本中检出7种α-地贫等位基因（染色体）942例，检出9种β-地贫等位基因（染色体）482例，计算上10413例MCV阴性α-地贫基因推算数205例和10413例MCV阴性-β地贫基因推算数46例，则潮汕平原地区人群α-基因携带率为9.49%（1147/12092），β-基因携带率为4.37%（528/12092）。结论新婚夫妇地中海贫血系统筛查及基因诊断能及时发现各类地贫异常患者，对预防出生缺陷有着重要意义。
목적：탐토잉전우생건강검사중신혼대육부부지중해빈혈사사재출생결함간예응용중적의의，위예방화감소지빈병환인적출생제공의거。방법쌍방균위조산평원지구호적적잉전우생건강검사대상12092례，소유양품균채용MCV법진행초사，이정맥혈평균홍세포체적（MCV≤80fL）작위진단지빈적양성삼고지표。재응용Gap-PCR화반향점잡교기술（RDB-PCR）대부분양품진행α지빈기인화β지빈기인정형。결과재1679례（MCV≤80fL）혈표본중검출7충α-지빈등위기인（염색체）942례，검출9충β-지빈등위기인（염색체）482례，계산상10413례MCV음성α-지빈기인추산수205례화10413례MCV음성-β지빈기인추산수46례，칙조산평원지구인군α-기인휴대솔위9.49%（1147/12092），β-기인휴대솔위4.37%（528/12092）。결론신혼부부지중해빈혈계통사사급기인진단능급시발현각류지빈이상환자，대예방출생결함유착중요의의。
Objective To investigate the significance of thalassemia screening in newly married couples preparing to have children in preventing birth defects in pregestational eugenical health examination and provide reference for preventing and reducing the birth of children with thalassemia. Methods Both parties were 12 092 registered permanent residents receiving pregestational eugenical health examination in Chaozhou-Shantou flat area and all the samples were screened primarily using the MCV method. Mean corpuscular volume (MCV≤80) of venous blood served as the positive reference indicator of thalassemia diagnosis. Then Gap-PCR and reverse dot blot technique (RDB-PCR) were used to conductα-thalassemia gene andβ-thalassemia gene genotyping on some samples. Results Of 1679 blood specimens (MCV ≤ 80), 942 cases of 7 types of α-thalassemia allele (chromosome) and 482 cases of 9 types of β-thalassemia allele (chromosome) were detected, and counting 10 413 MCV negative α-thalassemia gene calculation number 205 cases and 10 413 MCV negativeβ-thalassemia gene calculation number 46 cases, theα-gene carrying rate of the population in Chaozhou-Shantou flat area was 9.49%(1147/12 092) and theβ-gene carrying rate was 4.37%(528/12 092). Conclusion Systematic thalassemia screening and gene diagnosis of newly married couples can discover the patients with various types of thalassemia and has important significance to the prevention of birth defects.