التفاصيل البيبلوغرافية
| العنوان: |
Prenatal diagnosis in a Chinese family with type 1a glycogen storage disease by PCR-based genetic analysis |
| المؤلفون: |
Lee WJ, Yang CH, Ho ESC, Shih A, Lin LY, Lin WH |
| المساهمون: |
林立元 |
| بيانات النشر: |
John Wiley & Sons |
| سنة النشر: |
1996 |
| المجموعة: |
National Tsing Hua University Institutional Repository (NTHUR) |
| مصطلحات موضوعية: |
glucose-6-phosphatase gene, prenatal diagnosis, type Ia glycogen storage disease |
| الوقت: |
39 |
| الوصف: |
2050115010018 ; 生科系 ; Type Ia glycogen storage disease (GSD), an autosomal recessive metabolic disorder, is caused by a deficiency in glucose-6-phosphatase (G6Pase). We had previously identified the nature of the causative mutations in a Chinese family whose first two children were affected with type Ia GSD. Two different point mutations in the G6Pase gene, a guanine to adenine substitution at base position 327 in exon 2 and a thymine to adenine substitution at base position 110.1 in exon 5, change the restriction sites for the enzymes Fok I and Hinc II. Family study revealed that both parents were heterozygous carriers: the father with a mutant G6Pase allele at exon 2 and the mother with another mutant G6Pase allele at exon 5. This paper deals with a prenatal diagnosis on the fetus of this family who is at risk of type Ia GSD. Genomic DNA was extracted from a chorionic villus biopsy sampled at the tenth week of gestation. Exons 2 and 5 of the G6Pase gene were amplified by the polymerase chain reaction (PCR) followed by restriction enzyme digestion and direct sequence analysis. DNA analysis indicated that the fetus was a heterozygous carrier of type Ia GSD with a mutant G6Pase allele at exon 2 and a normal G6Pase allele al exon 5. The diagnosis was further confirmed by the same method with cultured amniocytes and with a blood sample after the baby was born. This is the first report of prenatal carrier detection of type Ia GSD at the gene level. |
| نوع الوثيقة: |
journal/newspaper |
| وصف الملف: |
140 bytes; text/html |
| اللغة: |
English |
| تدمد: |
0197-3851 |
| العلاقة: |
PRENATAL DIAGNOSIS,John Wiley & Sons,Volume 16,Issue 11,NOV 1996,Pages 1027-1031; http://nthur.lib.nthu.edu.tw/dspace/handle/987654321/48697Test |
| الإتاحة: |
http://nthur.lib.nthu.edu.tw/dspace/handle/987654321/48697Test |
| رقم الانضمام: |
edsbas.98CF5973 |
| قاعدة البيانات: |
BASE |
