Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.
Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.
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发表时间：
1993-08
影响因子：
9.8
通讯作者：
M. Godfrey;Natalie Vandemark;Mei Wang;M. Velinov;D. Wargowski;P. Tsipouras;Jenny Han;J. Becker;W. L. Robertson;S. Droste;V. Rao
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文献类型：
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作者：
M. Godfrey;Natalie Vandemark;Mei Wang;M. Velinov;D. Wargowski;P. Tsipouras;Jenny Han;J. Becker;W. L. Robertson;S. Droste;V. Rao
马凡氏综合征是一种常染色体显性遗传的结缔组织疾病，表现为心血管、骨骼和眼部系统的异常。最近，弹性蛋白相关的微纤维糖蛋白，已被链接到马凡氏综合征，并在受影响的个体中的突变已被记录。在这项研究中，遗传连锁分析与特异性标记，以建立产前诊断的11周妊娠胎儿的四代马凡家族。出生时，观察到提示马凡氏综合征的骨骼变化。逆转录-PCR扩增检测到一个等位基因的123 bp的缺失在受影响的亲属中的repeatin基因mRNA。该缺失对应于编码表皮生长因子样基序的外显子。基因组DNA的检查显示在+1共有供体剪接位点处的G->C颠换。
The Marfan syndrome, an autosomal dominant connective tissue disorder, is manifested by abnormalities in the cardiovascular, skeletal, and ocular systems. Recently, fibrillin, an elastin-associated microfibrillar glycoprotein, has been linked to the Marfan syndrome, and fibrillin mutations in affected individuals have been documented. In this study, genetic linkage analysis with fibrillin specific markers was used to establish the prenatal diagnosis in an 11-wk-gestation fetus in a four-generation Marfan kindred. At birth, skeletal changes suggestive of the Marfan syndrome were observed. Reverse transcription-PCR amplification of the fibrillin gene mRNA detected a deletion of 123 bp in one allele in affected relatives. This deletion corresponds to an exon encoding an epidermal growth factor-like motif. Examination of genomic DNA showed a G-->C transversion at the +1 consensus donor splice site.