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Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder
المؤلفون المشاركون
Hashimoto, Ohiko
Wakui, Keiko
Kaname, Tadashi
Naritomi, Kenji
Yanagi, Kumiko
Fukushima, Yoshimitsu
المصدر
العدد
المجلد 2012، العدد 2012 (31 ديسمبر/كانون الأول 2012)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2012-07-16
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Mutations in the X-linked genes neuroligin 3 (NLGN3) and neuroligin 4X (NLGN4X) were first implicated in the pathogenesis of X-linked autism in Swedish families.
However, reports of mutations in these genes in autism spectrum disorder (ASD) patients from various ethnic backgrounds present conflicting results regarding the etiology of ASD, possibly because of genetic heterogeneity and/or differences in their ethnic background.
Additional mutation screening study on another ethnic background could help to clarify the relevance of the genes to ASD.
We scanned the entire coding regions of NLGN3 and NLGN4X in 62 Japanese patients with ASD by polymerase chain reaction-high-resolution melting curve and direct sequencing analyses.
Four synonymous substitutions, one in NLGN3 and three in NLGN4X, were identified in four of the 62 patients.
These substitutions were not present in 278 control X-chromosomes from unrelated Japanese individuals and were not registered in the database of Single Nucleotide Polymorphisms build 132 or in the Japanese Single Nucleotide Polymorphisms database, indicating that they were novel and specific to ASD.
Though further analysis is necessary to determine the physiological and clinical importance of such substitutions, the possibility of the relevance of both synonymous and nonsynonymous substitutions with the etiology of ASD should be considered.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Yanagi, Kumiko& Kaname, Tadashi& Wakui, Keiko& Hashimoto, Ohiko& Fukushima, Yoshimitsu& Naritomi, Kenji. 2012. Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder. Autism Research and Treatment،Vol. 2012, no. 2012, pp.1-5.
https://search.emarefa.net/detail/BIM-493505
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Yanagi, Kumiko…[et al.]. Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder. Autism Research and Treatment No. 2012 (2012), pp.1-5.
https://search.emarefa.net/detail/BIM-493505
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Yanagi, Kumiko& Kaname, Tadashi& Wakui, Keiko& Hashimoto, Ohiko& Fukushima, Yoshimitsu& Naritomi, Kenji. Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder. Autism Research and Treatment. 2012. Vol. 2012, no. 2012, pp.1-5.
https://search.emarefa.net/detail/BIM-493505
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-493505
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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