MOLECULAR DIAGNOSIS IN IRANIAN PATIENTS WITH SPINAL MUSCULAR ATROPHY

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

SHAFEGHATI Y.; TEYMOURIAN S.; BABAMOHAMMADI GH.R.; NAJMABAD H.; ALMADANI N.; KARIMINEZHAD R.; AFROUZAN F.

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: ARCHIVES OF IRANIAN MEDICINE Year:2004 | Volume:7 | Issue:1 Page(s): 47-52

Download Full-Text

View:

396

Download:

235

Cites:

Information Journal Paper

Title

MOLECULAR DIAGNOSIS IN IRANIAN PATIENTS WITH SPINAL MUSCULAR ATROPHY

Author(s)

Keywords

SMA; WERDNIG-HOFMANN DISEASE; MOLECULAR ANALYSIS; PRENATAL DIAGNOSIS

GENETIC COUNSELING

CARRIER DETECTION.

Abstract

BACKGROUND-Spinal muscular atrophies (SMA) are a group of heterogeneous disorders characterized by the degeneration of the lower motor neurons of the ventral horns of the spinal cord. They are inherited by an autosomal recessive pattern, and because of the high rate of consanguinity in the Iranian population the incidence of these diseases is very high in this region. The precise frequency has not been determined. We set up molecular tests for the diagnosis of affected patients, CARRIER DETECTION. and prenatal diagnosis for high risk pregnancies. MATERIALS AND METHODS-We investigated the presence or absence of the survival motor neuron (SMN) gene in 47 Iranian families, including 60 patients by polymerase chain reaction amplification of exons 7 and 8 in affected individuals and parents of patients for CARRIER DETECTION. In addition, prenatal testing was performed on 15 pregnant mothers. RESULTS-Mutation detection in the 22 live patients showed that in the 21 cases, both alleles were deleted. In 1 case only one of the mutations was detected, therefore the other must have been a point mutation. In 34 families, both of the parents were carriers, that is, they carried only one copy of the normal SMN gene. In 9 of the couples only one mutation was detected, therefore in the other one, it should have been a point mutation that was not diagnosed. Molecular testing of 15 fetuses by prenatal diagnostic procedures showed that 4 of the fetuses were normal, 3 fetuses were affected and carried both of the mutations, five fetuses were carriers (they carried one of the mutations), and the other 2 were carriers or healthy, but only one case might have been carrier or affected. CONCLUSION-SMA is a very common disease in the Iranian population, due to the high frequency o.) consanguineous marriages. Preventive measures by GENETIC COUNSELING, CARRIER DETECTION. and prenatal diagnosis are helpful in the prevention of recurrences iii the future pregnancies.

Cites

No record.

References

No record.

Cite

APA: Copy

SHAFEGHATI, Y., TEYMOURIAN, S., NAJMABAD, H., ALMADANI, N., KARIMINEZHAD, R., AFROUZAN, F., & BABAMOHAMMADI, GH.R.. (2004). MOLECULAR DIAGNOSIS IN IRANIAN PATIENTS WITH SPINAL MUSCULAR ATROPHY. ARCHIVES OF IRANIAN MEDICINE, 7(1), 47-52. SID. https://sid.ir/paper/279780/en

Vancouver: Copy

SHAFEGHATI Y., TEYMOURIAN S., NAJMABAD H., ALMADANI N., KARIMINEZHAD R., AFROUZAN F., BABAMOHAMMADI GH.R.. MOLECULAR DIAGNOSIS IN IRANIAN PATIENTS WITH SPINAL MUSCULAR ATROPHY. ARCHIVES OF IRANIAN MEDICINE[Internet]. 2004;7(1):47-52. Available from: https://sid.ir/paper/279780/en

IEEE: Copy

Y. SHAFEGHATI, S. TEYMOURIAN, H. NAJMABAD, N. ALMADANI, R. KARIMINEZHAD, F. AFROUZAN, and GH.R. BABAMOHAMMADI, “MOLECULAR DIAGNOSIS IN IRANIAN PATIENTS WITH SPINAL MUSCULAR ATROPHY,” ARCHIVES OF IRANIAN MEDICINE, vol. 7, no. 1, pp. 47–52, 2004, [Online]. Available: https://sid.ir/paper/279780/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops