MUTATION ANALYSIS OF SLC20A2 AND SPP2 AS CANDIDATE GENES FOR FAMILIAL IDIOPATHIC BASAL GANGLIA CALCIFICATION

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.

ASHTARI FERESHTEH; SALIMINEJAD KIOOMARS; AHANI ALI; KAMALI KOOROSH; PAHLEVANZADEH ZHAMAK; KHORRAM KHORSHID HAMID REZA

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

Journal Paper

Paper Information

Journal: Avicenna Journal of Medical Biotechnology Year:2013 | Volume:5 | Issue:4 (18) Page(s): 251-256

Download Full-Text

View:

402

Download:

127

Cites:

Information Journal Paper

Title

MUTATION ANALYSIS OF SLC20A2 AND SPP2 AS CANDIDATE GENES FOR FAMILIAL IDIOPATHIC BASAL GANGLIA CALCIFICATION

Author(s)

Keywords

FAMILIAL IDIOPATHIC BASAL GANGLIA CALCIFICATION

MUTATION

SLC20A2PROTEIN

SPP2 PROTEIN

Abstract

Background: FAMILIAL IDIOPATHIC BASAL GANGLIA CALCIFICATION (IBGC) is a rare neurodegenerative disorder which is usually transmitted as an autosomal dominant trait. IBGC is genetically heterogeneous andSLC20A2, on chromosome 8p21.1–8q11.23, is the first gene found in IBGC-affected patients with varied ancestry. On the other hand, several candidate genes for IBGC on chromosome 2q37, including theSPP2 gene, may play a role in inhibiting calcification.Methods: Totally, 22 members of a three generational Iranian family affected by IBGC, with an autosomal dominant pattern of inheritance were included in this study. DNA was extracted from the whole blood using standard salting out method. To find a MUTATION responsible for IBGC, we sequenced the coding region ofSLC20A2 as well as promoter and coding region of SPP2 in the index subject of IBGC-affected family.Results: Pathogenic MUTATION was found neither in SLC20A2 nor in SPP2.Conclusion: Our results strengthen genetic heterogeneity of this condition. Additional MUTATION studies are necessary to find a gene or genes responsible for IBGC in this affected family.

Cites

No record.

References

Cite

APA: Copy

ASHTARI, FERESHTEH, SALIMINEJAD, KIOOMARS, AHANI, ALI, KAMALI, KOOROSH, PAHLEVANZADEH, ZHAMAK, & KHORRAM KHORSHID, HAMID REZA. (2013). MUTATION ANALYSIS OF SLC20A2 AND SPP2 AS CANDIDATE GENES FOR FAMILIAL IDIOPATHIC BASAL GANGLIA CALCIFICATION. AVICENNA JOURNAL OF MEDICAL BIOTECHNOLOGY (AJMB), 5(4 (18)), 251-256. SID. https://sid.ir/paper/313821/en

Vancouver: Copy

ASHTARI FERESHTEH, SALIMINEJAD KIOOMARS, AHANI ALI, KAMALI KOOROSH, PAHLEVANZADEH ZHAMAK, KHORRAM KHORSHID HAMID REZA. MUTATION ANALYSIS OF SLC20A2 AND SPP2 AS CANDIDATE GENES FOR FAMILIAL IDIOPATHIC BASAL GANGLIA CALCIFICATION. AVICENNA JOURNAL OF MEDICAL BIOTECHNOLOGY (AJMB)[Internet]. 2013;5(4 (18)):251-256. Available from: https://sid.ir/paper/313821/en

IEEE: Copy

FERESHTEH ASHTARI, KIOOMARS SALIMINEJAD, ALI AHANI, KOOROSH KAMALI, ZHAMAK PAHLEVANZADEH, and HAMID REZA KHORRAM KHORSHID, “MUTATION ANALYSIS OF SLC20A2 AND SPP2 AS CANDIDATE GENES FOR FAMILIAL IDIOPATHIC BASAL GANGLIA CALCIFICATION,” AVICENNA JOURNAL OF MEDICAL BIOTECHNOLOGY (AJMB), vol. 5, no. 4 (18), pp. 251–256, 2013, [Online]. Available: https://sid.ir/paper/313821/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops