Genetics fmr gray zone allele what do we know about it

genetics fmr gray zone allele what do we know about it

For the purposes of this article we will use our laboratory classification of Medical Genetics recommendations defining normal FMR1 alleles as CGG repeat numbers Alleles of repeats are defined as intermediate or “ gray zone ” alleles, Therefore, it is important to know the frequency of premutation and full.
Keywords: fragile X syndrome, genetic testing, X-linked mental They are referred to as common, “ gray zone ” or intermediate, premutation, and . some alleles that are unmethylated; they are known as “methylation mosaics. There are several issues related to the FMR1 DNA test results that should be described.
Males with FXTAS will transmit their FMR1 premutation expansion to none of their sons FMR1 is the only gene in which mutation is known to cause related disorders. Intermediate alleles (also termed " gray zone " or “borderline”). . Molecular genetic testing for fragile X syndrome must include method(s) to detect.

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The possibility of clinical involvement in premutation carriers was initially discounted, since carrier mothers of children with fragile-X syndrome are typically intellectually normal Reiss et al. Article     PubMed     ISI     ChemPort   Snow K, Doud LK, Hagerman R, Pergolizzi RG, Erster SH, Thibodeau SN. Intranuclear inclusions in a fragile X mosaic male. The gray zone can be thought of in terms of what it is not: a full mutation, premutation, or typical the most common allele. Data analysis All molecular testing data are maintained in a proprietary database called Mol Gen, written by one of the authors BC. Robert A Saul , MD, FACMG and Jack C Tarleton , PhD, FACMG. Fragile X syndrome Such individuals are usually described as having "unmethylated full mutations. Instead, researchers who do population screening will need to identify and recruit those individuals with gray zone expansions who were ascertained in order to pool enough affected individuals to carry out the needed research. Intractable Rare Dis Res. Surprisingly, the gray zone is anything but dull, and instead represents a burgeoning area of research in Fragile X-associated Disorders. Dombrowski CLS, Morel ML, Rouillard P, Morgan K, Rousseau F. Behavioral abnormalities, sometimes including autism spectrum disorder, are common. genetics fmr gray zone allele what do we know about it

Genetics fmr gray zone allele what do we know about it

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