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Titolo:
Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan
Autore:
Tzeng, CC; Tzeng, PY; Sun, HS; Chen, RM; Lin, SJ;
Indirizzi:
Natl Cheng Kung Univ, Med Ctr, Dept Pathol, Div Cytogenet & Mol Genet, Tainan 704, Taiwan Natl Cheng Kung Univ Tainan Taiwan 704 t & Mol Genet, Tainan 704, Taiwan Natl Cheng Kung Univ, Med Ctr, Inst Mol Med, Tainan 704, Taiwan Natl ChengKung Univ Tainan Taiwan 704 Inst Mol Med, Tainan 704, Taiwan Natl Cheng Kung Univ, Med Ctr, Dept Pediat, Tainan 704, Taiwan Natl Cheng Kung Univ Tainan Taiwan 704 , Dept Pediat, Tainan 704, Taiwan
Titolo Testata:
DIAGNOSTIC MOLECULAR PATHOLOGY
fascicolo: 2, volume: 9, anno: 2000,
pagine: 75 - 80
SICI:
1052-9551(200006)9:2<75:IOSFFA>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
FRAGILE-X-SYNDROME; CGG REPEAT; FULL MUTATION; FRAXE; POPULATION; IDENTIFICATION; AMPLIFICATION; CHILDREN; SITE; PCR;
Keywords:
fragile X syndrome; FRAXA; FMR1; FRAXE; FMR2; screening; nonradioactive; betaine; polymerase chain reaction; Southern blot analysis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
34
Recensione:
Indirizzi per estratti:
Indirizzo: Tzeng, CC Natl Cheng Kung Univ, Med Ctr, Dept Pathol, Div Cytogenet & Mol Genet, 138Sheng Li Rd, Tainan 704, Taiwan Natl Cheng Kung Univ 138 Sheng LiRd Tainan Taiwan 704 , Taiwan
Citazione:
C.C. Tzeng et al., "Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan", DIAGN MOL P, 9(2), 2000, pp. 75-80

Abstract

Fragile X syndrome (FXS) is the most common form of familial mental retardation (MR), attributable to (CGG)n expansion in the FMR1 gene. FRAXE is less frequent, associated with a similar mutation of the FMR2 gene. This studyattempted to ascertain the prevalence of both disorders in Taiwan, as wellas to develop a method to effectively find carriers. A total of 321 patients with nonspecific MR were screened for the FMR1 and FMR2 mutation. Four of 206 boys and men (1.9%) and 1 in 115 girls and women (0.9%) were identified as having FXS. All four FXS boys or men could be identified by Southern blot analysis, as well as by a simple nonradioactive polymerase chain reaction analysis. None of the 206 boys or men had FMR2 full mutation. This confirmed the low incidence of FRAXE in Chinese. FXS appears to be more prevalent among patients with mild MR, because 4 of the 5 patients with FXS were from the 115 with mild MR (3.48%) and only 1 was from the other 206 with severe MR (0.49%). All five FXS cases were maternally inherited. Other family members were resistant to further searching for carriers. it is worth noting that none of these mothers had a discernible premarital family history ofMR. Thus the negative family history could not preclude the possibility that a woman was a carrier. To identify female carriers of childbearing age, beyond the scope of family history, is thus worthy of further exploration. Screening men for carriers using this inexpensive method is probably feasible, even though normal transmitting men have no immediate risk of producinga child with the disease. Female carriers can then be effectively identified from these normal transmitting men and can take all preventive measures.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/03/20 alle ore 15:42:18