Loading...
|
Please use this identifier to cite or link to this item:
http://ntur.lib.ntu.edu.tw/handle/246246/166655
|
| Title: | Determination of Smni/Smn2 Gene Dosage by a Quantitative Genotyping Platform Combining Capillary Electrophoresis and Maldi-Tof Mass Spectrometry |
| Authors: | 蘇怡寧;廖信凱;陳玉如
SU, YI-NING;LIAO, HSIN-KAI;CHEN, YU-JU |
| Contributors: | 基因醫學部 |
| Date: | 2006 |
| Issue Date: | 2009-09-23T02:52:13Z |
| Abstract: | Background: Spinal muscular atrophy (SMA) is a common inherited and fatal neuromuscular disease caused by deletions and/or mutations that lead to altered concentrations of proteins encoded by the survival motor neuron genes SMN1 and SMN2. Because of the high incidence ( at least 1 in 10 000 live births and a carrier frequency of 1 in 35 to 1 in 50) and severity of the disease, precise quantification of SMN1 and SMN2 gene copy numbers is essential for diagnosis and genetic counseling. Methods: We developed a genotyping platform combining capillary electrophoresis and matrix- assisted laser desorption/ ionization time-of-flight mass spectrometry ( MALDI-TOF MS) to quantify absolute gene dosage. The absolute gene dosage can be determined by a multiplexed competitive PCR protocol followed by capillary electrophoresis analysis. The relative SMN1/SMN2 ratio can be analyzed by PinPoint assay followed by MALDI-TOF MS analysis. Results: The complementary assays were evaluated in confirmed cases including 9 affected patients, 33 carriers, and 478 healthy individuals from the general population. We were able to determine all genotypes with different SMN1/SMN2 gene copy number ratios, which unambiguously diagnosed carrier status and the severity of SMA with 100% specificity. Conclusions: This quantitative genotyping platform is suitable for detection of SMA. The described approach may serve as a general quantitative genotyping method for molecular diagnosis of other inheritable diseases. (C) 2006 American Association for Clinical Chemistry. |
| Relation: | CLINICAL CHEMISTRY v.52 n.3 pp.367-369 |
| Appears in Collections: | [附設醫院基因醫學部] Periodical Articles
|
Files in This Item:
There are no files associated with this item.
|
All items in NTUR are protected by copyright, with all rights reserved.
|
