摘要

Esophageal atresia (EA) is a common life-threatening congenital anomaly that occurs in 1/3,000 newborns. Little is known of the genetic factors that underlie EA. Oculodigitoesophageoduodenal (ODED) syndrome (also known as "Feingold syndrome") is a rare autosomal dominant disorder with digital abnormalities, microcephaly, short palpebral fissures, mild learning disability, and esophageal/duodenal atresia. We studied four pedigrees, including a three-generation Dutch family with 11 affected members. Linkage analysis was initially aimed at chromosomal regions harboring candidate genes for this disorder. Twelve different genomic regions covering 15 candidate genes (approximately 15% of the genome) were excluded from involvement in the ODED syndrome. A subsequent nondirective mapping approach revealed evidence for linkage between the syndrome and marker D2S390 (maximum LOD score 4.51 at recombination fraction 0). A submicroscopic deletion in a fourth family with ODED provided independent confirmation of this genetic localization and narrowed the critical region to 7.3 cM in the 2p23-p24 region. These results show that haploinsufficiency for a gene or genes in 2p23-p24 is associated with syndromic EA.

译文

食管闭锁 (EA) 是一种常见的威胁生命的先天性异常,发生在 1/3 名新生儿中。对构成 EA 的遗传因素知之甚少。眼指食管十二指肠 (ODED) 综合征 (也称为 “Feingold 综合征”) 是一种罕见的常染色体显性遗传疾病,伴有数字异常、小头畸形、短睑裂、轻度学习障碍和食管/十二指肠闭锁。我们研究了四个家系,包括一个有 11 个受影响成员的三代荷兰家族。连锁分析最初是针对携带这种疾病候选基因的染色体区域。涵盖 15 个候选基因 (约 15% 的基因组) 的 12 个不同的基因组区域被排除在 ODED 综合征中。随后的非定向映射方法揭示了综合征与标记物 D2S390 之间联系的证据 (重组分数 0 时最大 LOD 评分 4.51)。第四个 ODED 家族的亚显微缺失提供了这种遗传定位的独立确认,并将 2p23-p24 区域的临界区域缩小到 7.3 厘米。这些结果表明 2p23-p24 的一个或多个基因的单倍剂量不足与综合征型 EA 有关。

Esophageal Atresia

消化 消化道发育畸形 疾病
概述  :  

先天性食管闭锁(esophageal atresia,EA)是胚胎发育3 周~6 周,在食管发育过程中的空泡期发生障碍引起的严重消化道发育畸形。以早产儿、未成熟儿较为多见,食管闭锁的发病比例为 1:2500~4500。 患儿合并肺炎、先天性心脏病,如不及时处理,可致患儿死亡。国内病死率27%~43.5%,国11%~34%。 有文献报道术后严重的肺部并发症和吻合口瘘是患儿死亡的主要原因,吻合口瘘的发生率为5%~42%。  临床表现唾液不能下咽,反流入口腔,出生后即流涎、吐白

esophageal 英 [iː,sɒfə'dʒiːəl] 美 [,isə'fædʒɪəl]
释义   adj. 食管的;食道的
例句   Research and application of tumor markers in esophageal squamous cell carcinoma. 肿瘤标志物在食管鳞状细胞癌中的研究与应用。

atresia  [ə'triʒə]
释义   n. 闭锁(畸形);无孔;不通(如子宫,输卵管)
例句   Objective: To discuss the feasibility and operation sequence for congenital atresia of esophagus by stomach pipe. 目的:探讨应用胃管初步诊断先天性食管闭锁的可行性及操作程序。

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