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首页> 外文期刊>Genetics in medicine >How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases.
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How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases.

机译：遗传状况的遗传方式如何影响家庭？对X连锁和常染色体隐性疾病家庭的内感，责备，污名和对遗传和生殖风险的理解的研究。

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PURPOSE: While the mode of inheritance of a genetic condition has long been considered to have not only medical, but also psychosocial consequences for families, this supposition has never been tested. METHODS: We surveyed 112 members of 51 families (59% response) with chronic granulomatous disease to determine the influence of mode of inheritance on parents', siblings', and patients' (1) knowledge of inheritance and reproductive risk; (2) concern about risk to future family-members; (3) feelings of guilt and blame; and (4) feelings of stigmatization. Ninety-six members of 51 families (49% response) with Duchenne/Becker muscular dystrophy and spinal muscular atrophy types II/III were also studied. RESULTS: X-linked families had better understanding of inheritance (P < 0.001) and reproductive risks (P < 0.01). X-linked mothers worried more about risks to future generations; other autosomal-recessive family members were as worried. X-linked mothers were more likely to feel guilty (P < 0.01) and blame themselves (P < 0.001). X-linked fathers blamed their child's mother (P < 0.05) and X-linked mothers felt more blamed by the father (P < 0.01). X-linked family-members were more likely to consider being a carrier stigmatizing (P < 0.05). CONCLUSION: When providing genetic counseling, attention should be given to guilt and blame in X-linked families and understanding reproductive risks in autosomal recessive families.
机译：目的：虽然长期以来认为遗传病的遗传方式不仅对家庭有医学上的影响，而且对家庭有社会心理的影响，但这种假设从未得到过检验。方法：我们调查了51个慢性肉芽肿病家庭的112名成员（占59％的应答），以确定遗传方式对父母，兄弟姐妹和患者的影响（1）遗传和生殖风险知识; （2）担心未来家庭成员的风险; （3）有罪恶感和责备感; （4）被污名化的感觉。还研究了Duchenne / Becker肌营养不良症和II / III型脊髓性肌萎缩症的51个家庭的96个成员（应答率为49％）。结果：X连锁家庭对遗传（P <0.001）和生殖风险（P <0.01）有更好的了解。与母亲有联系的母亲更加担心后代的风险。其他常染色体隐性遗传家族成员也感到担忧。与X相连的母亲更容易感到内（P <0.01）和自责（P <0.001）。与X有联系的父亲责备孩子的母亲（P <0.05），与X有联系的母亲更多地受到父亲的责备（P <0.01）。 X连锁的家庭成员更有可能被视为带有污名的携带者（P <0.05）。结论：在提供遗传咨询时，应注意X连锁家庭的负罪感和责备，并了解常染色体隐性遗传家庭的生殖风险。

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