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[Direct DNA diagnosis of Friedreich's ataxia].
Cas Lek Cesk. 1999 Oct 20; 138(18):557-9.CL

Abstract

BACKGROUND

Friedreich's ataxia is an autosomal recessive, neurodegenerative disease with a prevalence of 1-2: 100,000. Ninety five % of cases are caused by Friedreich's ataxia expansion of GAA triplet repeat in the first intron of the X25 gene. The gene is mapped on chromosome 9q. The objective of the investigation was to introduce simple and reliable DNA diagnosis helping to specify of spinocerebellare ataxias.

METHODS AND RESULTS

Our diagnosis is based on the differentiation of normal and mutant alleles of gene X25 with PCR and electrophoresis on agarose gel. Size of PCR product of normal allele is in our case 521-614 bp. It is responding to 7-38 GAA triplets. Size of mutant alleles with 200-1200 GAA triplets is as 4100 bp. After the method was introduced, we analysed 12 probands. Four of them suffered from Friedreich's ataxia.

CONCLUSIONS

We introduced a fast, non-radioactive, reliable DNA diagnostic method. The contribution of this method is defection of carriers and we can screen of families with the risk of Friedreich's ataxia.

Authors+Show Affiliations

Výzkumný ústav zdraví dítĕte, Brno.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Research Support, Non-U.S. Gov't

Language

cze

PubMed ID

10596471

Citation

Borský, M, et al. "[Direct DNA Diagnosis of Friedreich's Ataxia]." Casopis Lekaru Ceskych, vol. 138, no. 18, 1999, pp. 557-9.
Borský M, Pekarík V, Tvrdíková M, et al. [Direct DNA diagnosis of Friedreich's ataxia]. Cas Lek Cesk. 1999;138(18):557-9.
Borský, M., Pekarík, V., Tvrdíková, M., & Kozák, L. (1999). [Direct DNA diagnosis of Friedreich's ataxia]. Casopis Lekaru Ceskych, 138(18), 557-9.
Borský M, et al. [Direct DNA Diagnosis of Friedreich's Ataxia]. Cas Lek Cesk. 1999 Oct 20;138(18):557-9. PubMed PMID: 10596471.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Direct DNA diagnosis of Friedreich's ataxia]. AU - Borský,M, AU - Pekarík,V, AU - Tvrdíková,M, AU - Kozák,L, PY - 1999/12/22/pubmed PY - 1999/12/22/medline PY - 1999/12/22/entrez SP - 557 EP - 9 JF - Casopis lekaru ceskych JO - Cas Lek Cesk VL - 138 IS - 18 N2 - BACKGROUND: Friedreich's ataxia is an autosomal recessive, neurodegenerative disease with a prevalence of 1-2: 100,000. Ninety five % of cases are caused by Friedreich's ataxia expansion of GAA triplet repeat in the first intron of the X25 gene. The gene is mapped on chromosome 9q. The objective of the investigation was to introduce simple and reliable DNA diagnosis helping to specify of spinocerebellare ataxias. METHODS AND RESULTS: Our diagnosis is based on the differentiation of normal and mutant alleles of gene X25 with PCR and electrophoresis on agarose gel. Size of PCR product of normal allele is in our case 521-614 bp. It is responding to 7-38 GAA triplets. Size of mutant alleles with 200-1200 GAA triplets is as 4100 bp. After the method was introduced, we analysed 12 probands. Four of them suffered from Friedreich's ataxia. CONCLUSIONS: We introduced a fast, non-radioactive, reliable DNA diagnostic method. The contribution of this method is defection of carriers and we can screen of families with the risk of Friedreich's ataxia. SN - 0008-7335 UR - https://www.unboundmedicine.com/medline/citation/10596471/[Direct_DNA_diagnosis_of_Friedreich's_ataxia]_ L2 - http://www.diseaseinfosearch.org/result/636 DB - PRIME DP - Unbound Medicine ER -