COMPOSITIONS AND METHODS FOR SCREENING FOR CREATINE TRANSPORTER DEFICIENCY

摘要

Amplification primers, sequencing primers, kits for screening, and screening methods for identifying a SLC6A8 creatine transporter gene mutation are disclosed. The screening method includes treating a sample of DNA with polymerase chain reaction amplification primers for amplifying regions of the DNA having SLC6A8 to produce a first, second, and third amplification product, sequencing the first, second, and third amplification products with sequencing primer pairs to provide a DNA sequence of SLC6A8 in the sample, and comparing the DNA sequence of SLC6A8 with a reference DNA sequence of SLC6A8.