Premium
Spinal Muscular Atrophy Carrier Screening by Multiplex Polymerase Chain Reaction using Dried Blood Spot on Filter Paper
Author(s) -
Majumdar R.,
Rehana Z.,
Jumah M. Al,
Fetaini N.
Publication year - 2005
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1046/j.1469-1809.2004.00149.x
Subject(s) - smn1 , spinal muscular atrophy , sma* , biology , polymerase chain reaction , multiplex polymerase chain reaction , microbiology and biotechnology , pathology , gene , genetics , medicine , mathematics , combinatorics
Summary Spinal muscular atrophy (SMA) is a common, often fetal, autosomal recessively inherited disease leading to progressive muscle wasting and paralysis as a result of degeneration of anterior horn cells of the spinal cord. The SMA‐determining gene, called the survival of motor neuron gene ( SMN ), is present on 5q13 in two nearly identical copies, telomeric SMN ( SMN1 ) and centromeric SMN ( SMN2 ). It has been established that SMA is caused by mutations in SMN1 whereas homozygous deletion of SMN2 has apparently no pathological consequences. The aim of this study is to develop an easy and inexpensive method for the isolation of high‐quality template DNA from blood samples for SMA carrier screening by multiplex polymerase chain reaction. We have developed a protocol that optimizes detection of the SMN1 copy number in the human genome, producing a specific and sensitive assay using DNA extracted from a dried blood spot on IsoCode™ paper.