کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5905047 | 1569520 | 2011 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association
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کلمات کلیدی
VATER associationFoxf1IRBACDNIHdNTPMPVCGHVACTERLVACTERL association - انجمن VACTERLcomparative genomic hybridization - ترکیب هیبریداسیون ژنومی مقایسه شدهdeoxynucleotide triphosphate - دگزینوکوتیید تری فسفاتAlveolar capillary dysplasia - دیسپلازی مویرگی آلوئولارcharge - شارژNational Institutes of Health - مؤسسات ملی بهداشتmegabase - مگابایتیinstitutional review board - هیئت بررسی نظارتpolymerase chain reaction - واکنش زنجیره ای پلیمرازPCR - واکنش زنجیرهٔ پلیمرازVATER - پدرSingle nucleotide polymorphism - پلیمورفیسم تک نوکلئوتیدیSNP - چندریختی تک-نوکلئوتید
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
VACTERL association, a relatively common condition with an incidence of approximately 1 in 20,000 -35,000 births, is a non-random association of birth defects that includes vertebral defects (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal anomalies (R) and limb malformations (L). Although the etiology is unknown in the majority of patients, there is evidence that it is causally heterogeneous. Several studies have shown evidence for inheritance in VACTERL, implying a role for genetic loci. Recently, patients with component features of VACTERL and a lethal developmental pulmonary disorder, alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), were found to harbor deletions or mutations affecting FOXF1 and the FOX gene cluster on chromosome 16q24. We investigated this gene through direct sequencing and high-density SNP microarray in 12 patients with VACTERL association but without ACD/MPV. Our mutational analysis of FOXF1 showed normal sequences and no genomic imbalances affecting the FOX gene cluster on chromosome 16q24 in the studied patients. Possible explanations for these results include the etiologic and clinical heterogeneity of VACTERL association, the possibility that mutations affecting this gene may occur only in more severely affected individuals, and insufficient study sample size.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 54, Issue 3, MayâJune 2011, Pages 323-328
Journal: European Journal of Medical Genetics - Volume 54, Issue 3, MayâJune 2011, Pages 323-328
نویسندگان
Nneamaka B. Agochukwu, Daniel E. Pineda-Alvarez, Amelia A. Keaton, Nicole Warren-Mora, Manu S. Raam, Aparna Kamat, Settara C. Chandrasekharappa, Benjamin D. Solomon,