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[Prenatal gene diagnosis of paternally inherited alpha-thalassemia by detecting fetal DNA in maternal plasma].
- Source :
-
Zhonghua yi xue za zhi [Zhonghua Yi Xue Za Zhi] 2007 Jun 12; Vol. 87 (22), pp. 1540-4. - Publication Year :
- 2007
-
Abstract
- Objective: To evaluate the value of diagnosis of alpha-thalassemia by analyzing fetal DNA in maternal plasma.<br />Methods: Ten families were screened, the husbands being alpha-thalassemia Southeast Asia deletion (SEA alpha-thalassemia-1) heterozygotes and the pregnant women being alpha-thalassemia-2 heterozygotes. Fluorescent polymerase chain reaction (PCR) and gene scanning were used to detect the paternally inherited genotypes of SEA alpha-thalassemia-1 gene mutation and short tandem repeats (STRs) in the maternal plasma fetal DNA. The results were compared to those of conventional prenatal diagnosis of fetal DNA in amniotic fluid, chorionic villus or cord blood.<br />Results: Paternally derived STR genotypes were detected in all specimens of plasma fetal DNA. Paternally inherited SEA alpha-thalassemia-1 gene mutation was detected in 4 cases, while the other 6 cases did not inherit the paternal mutation. The results were completely concordant with those of the conventional prenatal diagnosis.<br />Conclusion: Noninvasive prenatal diagnostic method, the technique using fluorescent PCR and gene scanning to detect the fetal DNA and paternally inherited SEA alpha-thalassemia-1 gene mutation in maternal plasma helps exclude the fetuses with hemoglobin H diseases.
- Subjects :
- Fathers
Female
Fetal Diseases blood
Fetal Diseases genetics
Humans
Male
Polymerase Chain Reaction methods
Pregnancy
Pregnancy Trimester, First
Pregnancy Trimester, Second
alpha-Thalassemia blood
alpha-Thalassemia genetics
DNA blood
Fetal Diseases diagnosis
Prenatal Diagnosis methods
alpha-Thalassemia diagnosis
Subjects
Details
- Language :
- Chinese
- ISSN :
- 0376-2491
- Volume :
- 87
- Issue :
- 22
- Database :
- MEDLINE
- Journal :
- Zhonghua yi xue za zhi
- Publication Type :
- Academic Journal
- Accession number :
- 17785106