A NOVEL INTRONIC SPLICE SITE TAFAZZIN GENE
MUTATION DETECTED PRENATALLY IN A FAMILY
WITH BARTH SYNDROME Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V *Corresponding Author: Marija Bakšienė, M.D., Department of Human and Medical Genetics, Vilnius University,
Santarişkių Str. 2, LT-08861 Vilnius, Lithuania. Tel: +3702365116. E-mail: m.baksiene@gmail. com page: 95
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MATERIALS AND METHODS
A detailed genealogy of the family was constructed.
Inheritance in the presented pedigree was consistent with an
X-linked recessive pattern (Figure 1). The DNA of the proband’s
fetus (V:1)was extracted from chorionic villi using the
InstaGene™ Matrix (Bio-Rad Laboratories, Hercules, CA,
USA). The DNA of the proband’s sibling (IV: 12) was extracted
from a dried blood spot sample (Guthrie card; Newborn
Bloodspot Screening, Wales, Cardiff, UK; http://www.
newbornbloodspotscreening.wales.nhs.uk/) using the Insta-
Gene™ Matrix (Bio-Rad Laboratories). The DNA of other
family members (IV:13, III:8, II:1) was isolated from the venous
peripheral blood samples using the phenol-chloroform
extraction method. Amplification using specific primers for
X-linked TAZ gene (NM_ 000116) was performed for the
proband’s fetus (V:1). Polymerase chain reaction (PCR)
primers for exons 1-11 exons and adjacent intronic regions
of the TAZ gene were designed using the Primer3 (http://
bioinfo.ut.ee/primer3-0.4.0/primer3/) program [13,14].
Primer sequences are available from the authors upon request.
Family members were tested only for the mutation that
was observed in the fetus (i.e., c.285-1G>C). Amplification
products were electrophoresed with TBE 2.0% agarose gel
and sequenced using a BigDye Terminator version 3.1 cycle
sequence kit (Applied Biosystems, Waltham, MA, USA) on
an ABI PRISM™ 3130xl sequencer.
Results of Mutational Analyses. Sequence analysis
of the TAZ gene identified a hemizygous c.285-1G>C substitution
(c.[285-1G>C];[0]) in intron 3 in chorionic villi
DNA of the proband’s fetus (V:1). The same hemizygous
c.285-1G>C mutation was subsequently identified in the
deceased sibling of the proband (IV:12). The mutation was detected in proband’s DNA (IV:13) in the heterozygous
form (c.[285-1G>C];[=]) and the carrier status was confirmed.
The mother (III:8) and maternal grandmother (II:1)
of the proband also carries the mutation (heterozygous
genotype for this mutation) [Figure 2].
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