Comparison of MLPA Method for Detection of Known and Unknown Deletions in Beta Globin Gene Cluster with Old Methods (REAL-TIME, RFLP, Gap-PCR)

Autor: R. Alimohammadi, M. Raiesi, A. Ebrahimi, S. Fallah, S. Kianfar, M. Masoudifar, S. Jamali, S. Babashah, M. Karimipour, R. Mahdian, S. Zeinali

Publikováno v: Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum, Vol 2, Iss 4, Pp 5-10 (2009)

Background and ObjectivesThalassaemia is one of the most common single gene disorders, which is most prevalent in the Mediterranean, the Middle East, Indian subcontinent (malaria belt). One of the mutations that result in Thalassaemia is the deletion

Externí odkaz: https://doaj.org/article/e32f7c8ac208481ebfb36f29fd343869

Genetic origin of Behçet's disease population in Denizli, Turkey; Population genetics data analysis; Historical demography and geographical perspectives based on β-globin gene cluster haplotype variation

Autor: Onur Ozturk, Erol Ömer Atalay, Sanem Arikan, Ayfer Atalay, Anzel Bahadir

Ozturk, Onur/0000-0003-3404-4135 WOS: 000393734600005 PubMed: 28031553 In our study, we aimed to investigate the possible genetic drift, relationships, expansion and historical origin based on haplotype frequencies of the beta-globin gene cluster of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb997bd6398661c2d73d64ecd56b1f23
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/9219

Non-invasive first-trimester detection of paternal beta-globin gene mutations and polymorphisms as predictors of thalassemia risk at chorionic villous sampling

Autor: Theodore Stefos, Evangelos Paraskevaidis, George Makrydimas, Leandros Lazaros, Nicolaos Dalkalitsis, Elizabeth Hatzi, Ioannis Georgiou, Ioanna Bouba

Publikováno v: European Journal of Obstetrics & Gynecology and Reproductive Biology. 140:17-20

OBJECTIVE: The objective was to evaluate the beta-globin gene mutations and polymorphisms in cell-free fetal DNA in the early first trimester (7-9th weeks' gestation) for the prediction of thalassemia risk at chorionic villous sampling (CVS). STUDY D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef343b3b431a6de6cf1be2f02e41291d
https://doi.org/10.1016/j.ejogrb.2007.12.019

Definition of the minimal viral components required for the initiation of unprimed RNA synthesis by influenza virus RNA polymerase

Autor: Konrad Bishop, Liz Medcalf, Laurence Tiley, Debra Elton, Paul Digard, Ming Ta Michael Lee

Publikováno v: Lee, M T, Bishop, K, Medcalf, L, Elton, D, Digard, P & Tiley, L 2002, ' Definition of the minimal viral components required for the initiation of unprimed RNA synthesis by influenza virus RNA polymerase ', Nucleic Acids Research, pp. 429-38 .

The first 11 nt at the 5' end of influenza virus genomic RNA were shown to be both necessary and sufficient for specific binding by the influenza virus polymerase. A novel in vitro transcription assay, in which the polymerase was bound to paramagneti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf7d6d1e10c98bfc4ea84a9455d09621
https://doi.org/10.1093/nar/30.2.429

A laboratory strategy for genotyping haemoglobin H disease in the Chinese

Autor: Li Chong Chan, Edmond S. K. Ma, Amy Chan, Chi-Chiu So

Background: The thalassaemias are the commonest blood disorders worldwide, with South East Asia and southern China as areas of high prevalence. Accurate diagnosis of these disorders helps in clinical management with improved outcome. Methods: The α-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86a55e73e35255499ba550e25e8b07d4
https://europepmc.org/articles/PMC1994485/