A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan

2017 ◽  
Vol 92 (2) ◽  
pp. 217-220 ◽  
Author(s):  
C.-C. Tzeng ◽  
L.-P. Tsai ◽  
Y.-K. Chang ◽  
Y.-J. Hung ◽  
Y.-Y. Chang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Fragile X Syndrome ◽  
Southern Blotting ◽  
Fragile X ◽  
Southern Blotting Analysis ◽  
Blotting Analysis ◽  
Female Carriers

scholarly journals Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disorders

2005 ◽  
Vol 63 (3a) ◽  
pp. 564-570 ◽  
Author(s):  
Carlos Eduardo Steiner ◽  
Marilisa Mantovani Guerreiro ◽  
Antonia Paula Marques-de-Faria ◽  
Iscia Lopes-Cendes
Keyword(s):  
Fragile X Syndrome ◽  
Behavioral Problems ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Southern Blotting ◽  
Fragile Site ◽  
Fragile X ◽  
Molecular Study ◽  
Southern Blotting Analysis ◽  
Blotting Analysis

Fragile X syndrome is a frequent genetic disease associated to developmental disorders, including learning disability, mental retardation, behavioral problems and pervasive developmental disorders (autism and related conditions). We studied a sample of 82 individuals (69 males and 13 females) presenting with pervasive developmental disorders using three techniques for the diagnosis of fragile X syndrome (FXS). Cytogenetic analysis detected the fragile site in four males, but only one showed a consistent positive rate. Molecular study based on the PCR technique was inconclusive for most females (92.3%), which where latter submitted to Southern blotting analysis, and for one male (1.4%), excluding the FRAXA mutation in the remaining male individuals (98.6%). Molecular tests using the Southern blotting technique confirmed only one positive case (1.2%) in a male subject. These results showed that Southern blotting analysis of the FRAXA mutation has the best sensitivity and specificity for the diagnosis of FXS but also validated the PCR technique as a confinable screening test.

PRENATAL DIAGNOSIS OF THE FRAGILE X SYNDROME

1986 ◽  
pp. 73-77
Author(s):  
Lawrence R. Shapiro ◽  
Patrick L. Wilmot ◽  
Pauline Brenholz
Keyword(s):  
Prenatal Diagnosis ◽  
Fragile X Syndrome ◽  
Fragile X

Prenatal diagnosis of fragile X syndrome

The Lancet ◽  
1996 ◽  
Vol 348 (9032) ◽  
pp. 967-968 ◽  
Author(s):  
R Willemsen ◽  
JC Oosterwijk ◽  
FJ Los ◽  
H Galjaard ◽  
BA Oostra
Keyword(s):  
Prenatal Diagnosis ◽  
Fragile X Syndrome ◽  
Fragile X

Missed prenatal diagnosis of fragile-X syndrome

1989 ◽  
Vol 9 (11) ◽  
pp. 777-781 ◽  
Author(s):  
T. P. Webb ◽  
S. Bundey ◽  
Mark McKinley
Keyword(s):  
Prenatal Diagnosis ◽  
Fragile X Syndrome ◽  
Fragile X
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