Abstract: Disclosed herein is a kit for diagnosing spinal muscular atrophy (SMA) in a human subject based on the copy numbers of exons 7 and 8 of SMN1 gene and the copy numbers of exons 7 and 8 of SMN2 gene in a DNA sample isolated from the human subject. Also disclosed herein are methods of diagnosing SMA by use of the present kit, and methods of treating SMA based on the diagnostic result.

Abstract: Disclosed herein is a method of performing polymerase chain reaction (PCR) to determine a repeating number of CGG sequence in fragile X mental retardation 1 (FMR1) gene. Also disclosed herein are a kit, and uses thereof in making a diagnosis of Fragile X syndrome (FXS) in a human subject based on the repeating number of the CGG sequence in a DNA sample isolated from the human subject. According to embodiments of the present disclosure, the kit comprises four primers, in which the first primer comprises a first polynucleotide sequence of SEQ ID NO: 1; the second primer comprises a second polynucleotide sequence of SEQ ID NO: 2; the third primer comprises a third polynucleotide sequence of SEQ ID NO: 3, and a non-human sequence disposed at and connected to the 5?-end of the third polynucleotide sequence; and the fourth primer comprises the non-human sequence.

Abstract: Disclosed herein is a kit for diagnosing spinal muscular atrophy (SMA) in a human subject based on the copy numbers of exons 7 and 8 of SMN1 gene and the copy numbers of exons 7 and 8 of SMN2 gene in a DNA sample isolated from the human subject. Also disclosed herein are methods of diagnosing SMA by use of the present kit, and methods of treating SMA based on the diagnostic result.

Abstract: Disclosed herein is a method of performing polymerase chain reaction (PCR) to determine a repeating number of CGG sequence in fragile X mental retardation 1 (FMR1) gene. Also disclosed herein are a kit, and uses thereof in making a diagnosis of Fragile X syndrome (FXS) in a human subject based on the repeating number of the CGG sequence in a DNA sample isolated from the human subject. According to embodiments of the present disclosure, the kit comprises four primers, in which the first primer comprises a first polynucleotide sequence of SEQ ID NO: 1; the second primer comprises a second polynucleotide sequence of SEQ ID NO: 2; the third primer comprises a third polynucleotide sequence of SEQ ID NO: 3, and a non-human sequence disposed at and connected to the 5?-end of the third polynucleotide sequence; and the fourth primer comprises the non-human sequence.