Nonradioactive DNA diagnosis of fragile X syndrome in Japanese mentally retarded males

Nanba, Eiji; Kono, Yoshiyasu; Matuda, Atue; Yano, M.; Sato, Tikako; Takeshita, Kenzo

doi:10.1016/0887-8994(94)90367-0

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“…The most common technique is the polymerase chain reaction (PCR), in which the enzyme DNA polymerase is used to process and copy a specified sequence. The PCR product can be detected by radioactive (Fu et al, 1991;Pergolizzi et al, 1992;Erster et al, 1992) or other means (Brown et al, 1993;El-Aleem et al, 1995;Nanba et al, 1995;Haddad et al, 1996;Wang et al, 1995a). Thus, the method works on smaller quantities of less purified starting material, either blood or mouthwash (Hagerman et al, 1994a), than Southern blotting.…”

Section: Dna Amplification By Polymerase Chain Reactionmentioning

confidence: 99%

Screening for fragile X syndrome.

Murray¹,

Cuckle²,

Taylor³

et al. 1997

Health Technology Assessment

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List of abbreviations and glossary Technical terms and abbreviations are used throughout this report. The meaning is usually clear from the context but a glossary is provided for the non-specialist reader. In some cases usage differs in the literature but the term has a constant meaning throughout this review. AGG (adenine-guanine-guanine) Trinucleotide usually interspersed in the CGG repeat sequence in the FMR-1 gene. Carrier Individual with an FM or PM. Cascade screening Testing members of a proband's family. Case-finding Actively trying to diagnose probands for cascade screening. CGG (cytosine-guanine-guanine) Trinucleotide repeated in the FMR-1 gene. CVS (chorionic villus sampling) Invasive procedure to obtain placental tissue for prenatal diagnosis. Detection rate Proportion of affected individuals with positive results. Expansion Increase in the repeat sequence between generations. False-positive rate Proportion of unaffected individuals with positive results. FM (full mutation) Array of repeat size over 200. FMR (fragile X mental retardation) Fragile X syndrome. FMR-1 Gene which is mutated in fragile X syndrome. FMRP Protein product normally transcribed by FMR-1. FRAXA Fragile site associated with fragile X syndrome. FRAXE Fragile site on the X chromosome which is associated with mild mental handicap. FRAXD & F Fragile sites close to FRAXA & E. Haplotype Combination of linked genetic markers. LCR Ligase chain reaction. Mosaicism Individual with more than one cell line of different genetic composition. nCGG A sequence of n repeats. Negative predictive value Probability that an individual with a negative result is unaffected. NTM (normal transmitting male) Unaffected male with a PM. Obligate carrier Person who from pedigree analysis must have passed on an affected gene. PCR (polymerase chain reaction) Method of amplifying small amounts of DNA. PM (pre-mutation) Array of repeat size 53 or 55-200. Positive predictive value Probability that an individual with a positive result is affected. Proband Affected individual through whom attention is drawn to a pedigree. PUBS (peripheral umbilical cord blood sampling) Invasive procedure to obtain foetal blood for prenatal diagnosis. Pure repeat size The largest contiguous number of CGG repeats in an array without intervening AGGs. RED Repeat expansion detection. Repeat sequence Section of DNA containing the CGG repeats. Repeat size Total number of repeats in an array, both CGG and AGG. Triplet Trinucleotide. Xq27.2 Locus of FRAXD. Xq27.3 Locus of FRAXA.

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