FIELD: biotechnology.
SUBSTANCE: invention relates to medical genetics and molecular biology and can be used for neonatal screening of 5q spinal muscular atrophy. Described is a process for detecting homozygous deletion of exon 7 of the SMN1 and SMN2 genes used for neonatal screening for 5q spinal muscular atrophy. It involves performing asymmetric PCR from blood stains on filter paper, followed by analysis of the melting curve of duplexes of complementary sequences of exon 7 of the SMN genes (SMN1 and SMN2) formed by hybridization probes of SEQ ID NO:3 and SEQ ID NO:4 and sequences of exon 7 of the gene and pseudogene.
EFFECT: performing neonatal screening using a process for detecting a homozygous deletion of SMN1 and SMN2 exon 7.
1 cl, 3 dwg, 1 tbl
| Title | Year | Author | Number |
|---|---|---|---|
| METHOD OF PREIMPLANTATION GENETIC DIAGNOSTICS OF TYPE 1 SPINAL MUSCULAR ATROPHY | 2017 |
|
RU2671156C1 |
| GENETIC CONSTRUCT CONTAINING CHIMERIC GUIDE RNA SEQUENCES FOR DELETION OF HUMAN SMN1 GENE IN HUMAN CELL CULTURES | 2022 |
|
RU2816897C2 |
| METHOD OF ASSESSING EFFECTIVENESS OF THERAPEUTIC CONSTRUCTS AIMED AT INCREASING LEVEL OF FULL-LENGTH SMN TRANSCRIPTS | 2022 |
|
RU2811909C1 |
| COMPOSITIONS AND METHODS OF MODULATING SMN2 SPLICING IN SUBJECT | 2010 |
|
RU2566724C9 |
| COMPOSITIONS AND METHODS FOR MODULATION OF SMN2 SPLICING IN A SUBJECT | 2019 |
|
RU2793459C2 |
| COMPOSITIONS AND METHODS OF SML2 SPLICING MODULATION IN SUBJECT | 2010 |
|
RU2683772C2 |
| GENETIC CONSTRUCT ADAPTED TO DELIVER THE HUMAN SMN1 GENE WITH ADENO-ASSOCIATED VIRUS OF SEROTYPE 2 TO PROVIDE NEUROSPECIFIC EXPRESSION | 2022 |
|
RU2801848C1 |
| TEST SYSTEM FOR MUTATION DETECTION IN HUMAN FUMARYLACETOACETATE HYDROLASE AND ALPHA-1-ANTITRYPSIN GENES | 2010 |
|
RU2458131C1 |
| BIOCHIP FOR MUTATION DETECTION IN GALACTOSE-1-PHOSPHATE-URIDYL TRANSFERASE GENE CAUSING HEPATIC INVOLVEMENT IN NEWBORNS | 2009 |
|
RU2423521C1 |
| METHODS AND SYSTEMS FOR DIAGNOSTICS ACCORDING TO WHOLE GENOME SEQUENCING DATA | 2020 |
|
RU2807604C2 |
