BIRTH AND POPULATION PREVALENCE OF DUCHENNE MUSCULAR-DYSTROPHY IN THE NETHERLANDS
BIRTH AND POPULATION PREVALENCE OF DUCHENNE MUSCULAR-DYSTROPHY IN THE NETHERLANDS
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DOI：
10.1007/bf00197256
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发表时间：
1992-01-01
期刊：
影响因子：
5.3
通讯作者：
TENKATE, LP
中科院分区：
文献类型：
--
作者：
VANESSEN, AJ;BUSCH, HFM;TENKATE, LP
导致杜氏肌营养不良症（DMD）的突变存活期短。 因此，新的突变维持了出生和人口流行。 目前的库存估计DMD在荷兰的出生率和人口患病率。 使用了7种病例识别方法。 获得了496例明确的、可能的或可能的DMD患者的数据，这些患者自1961年以来出生，或在1983年1月1日存活。 几种方法给出了超过95%的估计确定性。 出生时DMD的患病率估计为每年23.7 × 10（-5）（1：4215）例男性活产（MLB）。 1983年1月1日男性人口的患病率为5.4 × 10（-5）（1：18496）。 在这项研究中，约1%的男性可能患有常染色体隐性杜氏样肌营养不良症。 到目前为止，还没有令人信服的证据表明出生时DMD患病率的地理差异。 杜氏肌营养不良症的频率研究列表包括在内。 间接法计算的DMD突变率为每代7.9 × 10 ~（-5）个基因。 然而，这可能是一个过高的估计，因为这种方法没有考虑生殖系镶嵌。 采用改良的性别比方法，散发性DMD在所有病例中的比例估计为0.106（范围0-0.332）。 如果男性和女性配子中的突变率相等，那么DMD中生殖系嵌合体的高频率可能是先前研究中发现的明显缺乏散发病例的原因。 因此，估计DMD中新突变体比例的方法应考虑种系嵌合现象。 改良的性比方法允许纳入生殖系嵌合体的数据（如有）。
Mutations causing Duchenne muscular dystrophy (DMD) have a short survival. Therefore, birth and population prevalence are maintained by new mutations. The present inventory was made to estimate the birth and population prevalence rates of DMD in the Netherlands. Seven methods of case identification were used. Data on 496 definite, probable or possible DMD patients born since 1961, or alive on January 1, 1983, were obtained. Several methods gave an estimated ascertainment of more than 95%. The prevalence rate at birth of DMD was estimated at 23.7 x 10(-5) (1:4215) male live births (MLB) yearly. The prevalence rate in the male population on January 1, 1983 was 5.4 x 10(-5) (1:18496). About 1% of the males in this study may have autosomal recessive Duchenne-like muscular dystrophy. Until now there has been no convincing evidence for geographic differences in DMD prevalence at birth. A list of frequency studies of Duchenne muscular dystrophy is included. The DMD mutation rate calculated by the indirect method is 7.9 x 10(-5) genes per generation. However, this may well be an over-estimate, as this method does not account for germline mosaicism. Using a modified sex ratio method the proportion of sporadic DMD among all cases was estimated to be 0.106 (range 0-0.332). High frequency of germline mosaicism in DMD is a likely cause for the apparent lack of sporadic cases as found in previous studies, if mutation rates in male and female gametes are equal. Therefore, methods for estimating the proportion of new mutants in DMD should take germline mosaicism into account. The modified sex ratio method allows incorporation of data on germline mosaicism if available.