Feasibility of Blood Spot PCR in Large-Scale Screening of Fragile X Syndrome in Southern Taiwan

在南台灣以血片和PGR進行大規模篩檢X染色體脆折症之可行性探討

周琪(Julie Chi Chow) ； 陳德人(De-Jen Chen) ； 林靖南(Ching-Nan Lin) ； 邱晉陽(Chin-Yang Chiu) ； 黃崇濱(Chung-Bin Huang) ； 邱寶琴(Pao-Ching Chiu) ； 林其和(Chi-Ho Lin) ； 林秀娟(Shio-Jean Lin) ； 曾慶督(Ching-Cherng Tzeng)

《Journal of the Formosan Medical Association》 102卷1期 (2003/01) Pp. 12-16

https://doi.org/10.29828/JFMA.200301.0003

並列摘要

Background and Purpose: Fragile X syndrome (FXS) is the most common form of hereditary mental retardation. Early diagnosis of the disease may lead to better prognosis for children who participate in early intervention programs. This
study attempted to evaluate whether screening newborn boys with simple polymerase chain reaction (PCR) assay could be an effective approach for detection of mutation carriers and FXS, a process that may also facilitate detection of young carrier mothers.
Methods: Filter paper blood spot samples of 4843 newborn boys were collected from five hospitals in southern Taiwan. They were tested with a simple non-radioactive PGR for the presence of FMR1 gene mutation by determining the number of FMR1 CGG repeats. By this method, the examined sample can be reliably classified as normal (＜40), intermediate (40-54) , and mutant group (＞54) , according to the number of CGG repeats.
Results: The FMR1 CGC repeat number of all but four samples was below 54, with 90 samples (1.8%) between 40 and 54 (the intermediate range). Two of the four abnormal samples were carriers of the permutation. The other two failed
repeatedly in PCR amplification for the FMR1 gene, but not for the control K-ras gene. Hence, these samples seemed to be candidate carriers of large permutation or even full mutation, indicating the need for confirmation with standard
Southern blot analysis.
Conclusions: This study demonstrated that a simple PCR combined with blood spot sampling is effective and feasible for large-scale screening of newborn boys for fragile X carrier status. The relatively low carrier rate in this population
suggests that the cost-effectiveness of implementation of such screening on a population-wide basis would be lower than in the Jewish and Caucasian populations.

並列關鍵字

Fragile X syndrome ； Newborns ； Neonatal screen ； PCR ； Blood