Genetics of Fragile X and Carrier Testing for Fragile X | webinar, Dr Alison Archibald, 23 Aug 2022
Автор: Fragile X Association of Australia
Загружено: 2022-08-30
Просмотров: 2553
Comprehensive and clear overview of
GENETICS and INHERITANCE of Fragile X and
GENETIC CARRIER TESTING for Fragile X.
Genetics of Fragile X, including:
0 the role of the FMR1 gene and how repeated DNA code (CGG repeats) in the FMR1 gene can result in Fragile X premutation or Fragile X full mutation (Fragile X syndrome)
0 the chance of a changed Fragile X gene being passed on from parent to child.
Inheritance of Fragile X, including:
0 factors affecting the chance of developing Fragile X-associated conditions such as FXPOI and FXTAS
0 factors affecting the chance of having a child with Fragile X syndrome, including CGG repeat size and AGG interrupts of the carrier parent
0 factors which can affect the degree of affectedness for individuals with Fragile X syndrome, including the sex of the child, and mosaicism (variation) in CGG repeat size and methylation of the gene.
Testing for Fragile X, including:
0 which genetic tests are used, including PCR, Southern blot, AGG interrupt analysis and methylation analysis.
0 what to consider when thinking about genetic carrier testing in children and young people.
Outline of reproductive considerations for people who are carriers for Fragile X.
The webinar was held on 23 August 2022.
Webinar AV hosting and video production by AlbaPrime https://www.albaprime.com/
Доступные форматы для скачивания:
Скачать видео mp4
-
Информация по загрузке:
