PARENTAL SEX EFFECT IN SPINA-BIFIDA - A ROLE FOR GENOMIC IMPRINTING
PARENTAL SEX EFFECT IN SPINA-BIFIDA - A ROLE FOR GENOMIC IMPRINTING
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DOI：
10.1002/ajmg.1320440426
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发表时间：
1992-11-01
期刊：
影响因子：
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通讯作者：
JOHNSON, WG
中科院分区：
文献类型：
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作者：
CHATKUPT, S;LUCEK, PR;JOHNSON, WG
50个家庭（491个人在137 sibships）与一个以上的孤立的，非综合征型脊柱裂（SB）的生活情况进行了遗传分析。女性基因携带者（56例）是男性基因携带者（28例）的2倍（P < 0.005）。这不是一个人为的确定偏见，因为无论是通过先证者的父亲还是母亲获得的家系，基因携带者的性别比例是相同的。此外，在用相同方法分析的其他疾病中也没有观察到这种效应。这种影响也不是由于生育力差异造成的，因为每个基因携带者父母的受影响和未受影响儿童的数量和性别对于男性或女性基因携带者父母没有差异。没有证据表明缺失的男性基因携带者因选择性自然流产而丢失。除了简单的X连锁或简单的线粒体遗传外，没有男性到男性或男性到女性的传播缺陷。如果基因组印记在SB中不平等的女性和男性携带者频率中起作用，则携带率应随父母性别而不同。母本后代的外显率高于父本，但差异无统计学意义。此外，男性和女性的基因携带者经常被发现在同一个家系。因此，目前的数据表明，在SB的印迹可能的作用。
Fifty families (491 individuals in 137 sibships) with more than one living case of isolated, nonsyndromic spina bifida (SB) were analyzed genetically. There were twice as many gene-carrier females (56) as gene-carrier males (28) (P < 0.005). This was not an artifact of ascertainment bias because the sex ratio of gene-carriers was the same whether the pedigree was obtained through the proband's father or mother. Also, this effect was not observed in other disorders analyzed by the same method. Neither was the effect due to differential fertility because the number and sex of affected and unaffected children per gene-carrier parent were not different for male or female gene-carrier parents. There was no evidence that the missing male gene-carriers were lost by selective spontaneous abortion. There was no deficit of male-to-male or male-to-female transmission, excluding simple X-linked or simple mitochondrial inheritance. If genomic imprinting plays a role in the unequal female and male carrier frequencies in SB, penetrance should differ with parental sex. Penetrance was higher for offspring of female parents than of male parents, but the difference was not statistically significant. In addition, both male and female gene-carriers were frequently found in the same pedigree. Thus, the present data suggest a possible role for imprinting in SB.