Species Generation Sequencing based gene trapping techniques and spinal muscular atrophy detection kits and methods related gene copy number

The present invention discloses a spinal muscular atrophy-related gene copy number and detection kits based gene trapping species and the second generation sequencing technology. The kit comprises capture probes, capture probes and probes from the four main control probe associated components. 4 is a primary probe: capture probe SMN2 in exon 7 of the gene, such as SEQ ID NO: 1 shown; SMN2 gene capture probe outer exon 7, as SEQ ID NO: 2 as shown; capturing SMN1 gene exon 7 probe, such as SEQ ID NO: 3 as shown; an outer capture probe SMN1 gene exon 7, as SEQ ID NO: 4 shown; capture probe to capture the target region, sequenced, the present data analysis invention advances and to estimate copy number SMN1 SMN2 gene exon 7. The present invention solves the conventional method for sequencing a depth of unevenness, high error rate, good stability, small throughput problems.