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

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 probandís fetus (V:1)was extracted from chorionic villi using the InstaGeneô Matrix (Bio-Rad Laboratories, Hercules, CA, USA). The DNA of the probandís 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- Geneô 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 probandís 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 PRISMô 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 probandís 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 probandís 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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