MOLECULAR GENETIC-ANALYSIS OF 67 PATIENTS WITH DUCHENNE BECKER MUSCULAR-DYSTROPHY

被引：0
|
作者：
NIEMANNSEYDE, S [1 ]
SLOMSKI, R [1 ]
RININSLAND, F [1 ]
ELLERMEYER, U [1 ]
KWIATKOWSKA, J [1 ]
REISS, J [1 ]
机构：
[1] UNIV GOTTINGEN,KLINIKEN,INST HUMANGENET,GOSSLERSTR 12D,W-3400 GOTTINGEN,GERMANY
来源：
HUMAN GENETICS | 1992年 / 90卷 / 1-2期
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D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A total of 56 Duchenne muscular dystrophy (DMD) patients and 11 Becker muscular dystrophy (BMD) patients was analyzed by extended "multiplex" amplification of the DMD/BMD gene; deletions were found in 60% of these patients. The data obtained were used to test the frameshift hypothesis and to compare the distribution of familial versus isolated cases. A significant correlation was found between deletions and isolated cases. Additional experiments were performed in order to determine the deletion breakpoints more precisely. These data are a prerequisite for carrier analysis in the respective families by detection or exclusion of aberrant cDNA fragments derived from ectopic lymphocyte RNA. This diagnostic technique is illustrated by 5 examples.
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页码：65 / 70
页数：6
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