Kruyer H, Miranda M, Volpini V, Estivill X
Molecular Genetics Department, Institut de Recerca Oncologica, Hospital Duran i Reynals, Catalunya, Spain.
Prenat Diagn. 1994 Feb;14(2):123-30. doi: 10.1002/pd.1970140208.
Duchenne and Becker muscular dystrophy (D/BMD) are usually problematical when trying to determine the carrier status of at-risk women, which usually has to be based on haplotype or dosage analysis on Southern blots. Using multiplex polymerase chain reaction (PCR) analysis, we have detected deletions in 20 out of 44 D/BMD families with living affected members (45.5 per cent), more often in sporadic cases of DMD (14/22 with detectable deletion) than in familial ones (4/15), the majority (15/20) occurring in the distal region of the D/BMD gene. Four highly informative short tandem repeat polymorphisms (STRPs), which lie within the distal deletion hot spot of the D/BMD gene, can show loss of heterozygosity in carrier females, providing direct evidence of their carrier status. These STRPs greatly improve informativity, with a combined heterozygosity of 100 per cent and with the majority of families informative for three of the four STRPs. In 14/15 (93 per cent) of the families with distal deletions, the STRPs provided direct information on carrier status, and in some cases, they provide valuable information on recombination breakpoints and non-paternity.
杜兴氏和贝克氏肌营养不良症（D/BMD）在确定高危女性的携带者状态时通常存在问题，这通常必须基于Southern印迹上的单倍型或剂量分析。使用多重聚合酶链反应（PCR）分析，我们在44个有存活受累成员的D/BMD家族中的20个家族中检测到了缺失（45.5%），在散发性DMD病例中比在家族性病例中更常见（22例中有14例检测到缺失，而15例中有4例），大多数（20例中有15例）发生在D/BMD基因的远端区域。位于D/BMD基因远端缺失热点内的四个信息丰富的短串联重复多态性（STRP），可以显示携带者女性的杂合性缺失，为她们的携带者状态提供直接证据。这些STRP大大提高了信息性，综合杂合性为100%，大多数家族对四个STRP中的三个具有信息性。在15个有远端缺失的家族中的14个（93%）中，STRP提供了关于携带者状态的直接信息，在某些情况下，它们还提供了关于重组断点和非父系关系的有价值信息。
