PMC:4596894 / 4798-5791 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4596894","sourcedb":"PMC","sourceid":"4596894","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4596894","text":"Analysis of STRs and Healthy Control Population for Family 1\nFor family 1, we amplified, pooled, and analyzed short tandem repeat (STR) markers via capillary electrophoresis on an ABI 3130XL DNA sequencer (Applied Biosystems). We analyzed data with GeneMapper v.3.7 (Applied Biosystems). We used NCBI Map Viewer (annotation release 105) to search for STRs in a 10 Mb region surrounding the PEX1 mutation.\nWe collected blood samples from umbilical cords of 250 unrelated newborns originating from different regions of Morocco. The Moroccan origin of their parents and grandparents was confirmed. We obtained informed consent for DNA analysis from the parents. We used a standard salting-out method to extract genomic DNA from 3 ml blood. We developed a real-time PCR (Applied Biosystems 7500 Fast Real-Time PCR Systems) assay by using TaqMan probes for the PEX1 c.3750G\u003eA (p.Trp1250∗) nonsense mutation (Table 2) and validated the assay by using homozygous and heterozygous members of family 1.","divisions":[{"label":"title","span":{"begin":0,"end":60}},{"label":"p","span":{"begin":61,"end":404}}],"tracks":[]}