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日本施瓦茨曼-戴蒙德综合征患者中由基因转换引起的新型SBDS突变。

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.

作者信息

Nakashima Eiji, Mabuchi Akihiko, Makita Yoshio, Masuno Mitsuo, Ohashi Hirofumi, Nishimura Gen, Ikegawa Shiro

机构信息

Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, c/o Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, 108-8639 Minato-ku, Tokyo, Japan.

出版信息

Hum Genet. 2004 Mar;114(4):345-8. doi: 10.1007/s00439-004-1081-2. Epub 2004 Jan 29.

Abstract

Shwachman-Diamond syndrome (SDS; OMIM 260400) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction and metaphyseal chondrodysplasia. SDS is caused by mutations in SBDS, an uncharacterized gene. A previous study in SDS patients largely of European ancestry found that most SBDS mutations occurred within a approximately 240-bp region of exon 2 and resulted from gene conversion due to recombination with a pseudogene, SBDSP. It is unknown, however, whether these findings are applicable to other ethnic groups. To address this question, we examined SBDS mutations in six Japanese families with SDS by direct sequencing. We identified compound heterozygous mutations in four families: two were recurrent (96-97insA, 258+2T>C), and three were novel [292-295delAAAG, (183-184TA>CT +201A>G), (141C>T+183-184TA>CT+201A>G)] mutations. Most of these mutations also appear to result from gene conversion, but the conversion events occurred at various sites between intron 1 and exon 3. Thus, gene conversion mutations in SBDS are common to different ethnic groups, but they are not confined to a limited region of the gene.

摘要

舒-戴二氏综合征(SDS;OMIM 260400)是一种常染色体隐性疾病,其特征为外分泌胰腺功能不全、骨髓功能障碍和干骺端软骨发育异常。SDS由SBDS基因突变引起,SBDS是一个功能未知的基因。之前一项针对大多为欧洲血统的SDS患者的研究发现,大多数SBDS突变发生在外显子2大约240 bp的区域内,是与假基因SBDSP重组导致基因转换的结果。然而,这些发现是否适用于其他种族尚不清楚。为解决这一问题,我们通过直接测序检查了6个患有SDS的日裔家庭中的SBDS突变。我们在4个家庭中鉴定出复合杂合突变:其中2个是复发性突变(96 - 97insA,258 + 2T>C),3个是新突变[292 - 295delAAAG,(183 - 184TA>CT + 201A>G),(141C>T + 183 - 184TA>CT + 201A>G)]。这些突变大多似乎也是基因转换的结果,但转换事件发生在内含子1和外显子3之间的不同位点。因此,SBDS中的基因转换突变在不同种族中很常见,但并不局限于该基因的有限区域。

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