
常染色體顯性遺傳
Conclusion FC has obvious heterogeneity, and its mode of inheritance is autosomal dominant inheritance with reduced penetrance.
結論FC存在明顯的遺傳異質性,其遺傳模式呈常染色體顯性遺傳伴不完全外顯性。
An investigation of a genetic Blepharostenosis family was reported. It was proved that the disease was congenital eyelid syndrome and autosomal dominant inheritance.
報道了一個遺傳性小眼症家系的調查結果,該家系屬于先天性睑裂狹小綜合症,為常染色體顯性遺傳。
Conclusion:The essential hypertension is the human phenotype blemish caused by injured DNA. It is compatible with an autosomal dominant inheritance and its performance is delayed.
結論原發性高血壓是由DNA損傷引起的人類表型缺陷,該病症符合常染色體顯性遺傳,具延遲外顯性。
Inherited style of primary hypertension was not autosomal dominant inheritance are autosomal recessive inheritance.
不屬于常染色體顯性或隱性遺傳方式。
Herediatery nonpopsis colorectal cancer(HNPCC) is an autosomal dominant inheritance syndrome , its penetrance is as high as 70 - 80% , and occupy about 5-15% of the colorectal cancer.
遺傳性非息肉病性大腸癌(HNPCC)主要與遺傳因素有關,呈常染色體顯性遺傳,外顯率高達70%-80%。
Conclusions(1) HNPCC is of autosomal dominant inheritance (AD).
結論(1 )該家族呈常染色體顯性遺傳;
Owing to the influence of various complex factors, it is possible for the heterozygote of autosomal dominant inheritance to appear in different phenotypes.
由于各種複雜因素的影響,常染色體顯性遺傳的雜合子有可能出現不同的表現型,本文闡述了常染色體顯性遺傳的幾種類型。
The hereditary mode of this family line is a autosomal dominant inheritance, which differs from those which have been reported.
本家系遺傳方式為常染色體顯性遺傳,和其它學者報告不同。
With pedigree analysis, the genetic mode of the disease in the family are autosomal dominant inheritance.
據系譜分析,該疾病符合常染色體顯性遺傳方式。
Results ①Three DDEB families are in line with autosomal dominant inheritance;
結果①符合常染色體顯性遺傳;
The ac2+-Mg2+-ATPase activity of EH patients is distinctly defective and controled by genetic factors and transmitted in autosomal dominant inheritance.
EH患者鈣泵活性明顯改變,受遺傳因素控制,是垂直傳遞,為常染色體顯性遺傳。
Conclusion The congenital cataract is the human phenotype defect caused by injured DNA. It is compatible with the autosomal dominant inheritance.
結論先天性白内障是由DNA損傷引起的人類表型缺陷,該病症符合常染色體顯性遺傳。
Pedigree analysis indicated autosomal dominant inheritance.
呈常染色體顯性遺傳。
The results showed that 24, 51, 19, 14 epileptic families were respectively in the modes of autosomal dominant inheritance, autosomal recessive inheritance, X-sex inheritance, polygenic inheritance.
共發現24個常染色體顯性遺傳家系,19個X-連鎖顯性或隱性遺傳家系,51個常染色體隱性遺傳家系,另有14個家系為非孟德爾遺傳模式。
Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant inheritance disease. 25 cases from a family were reported. The pathology, clinical presentation and treatment were discussed.
遺傳出血性毛細血管擴張症為常染色體顯性遺傳病,臨床少見,本文就其病理變化、臨床特點進行讨論,探讨其治療方法。附一家系25例分析。
Conclusion:The family investigation suggested that the formation of cup ear was determined by the cup ear gene of an affected parent and it was an autosomal dominant inheritance.
所查杯狀耳均無耳聾病史及其它部位畸形。結論:杯狀耳的形成是由父母雙方中一方杯狀耳基因決定的,家系分析顯示為常染色體顯性遺傳。
Objective: To elucidate the molecular mechanism of neurofibromatosis type 2 (NF2) with autosomal dominant inheritance disease in a Chinese kindred.
目的:探讨中國人常染色體顯性遺傳2型神經纖維瘤病的基因突變和分子診斷。
Result: It's autosomal dominant inheritance in this family.
結果:該家族為常染色體顯性遺傳家系。
The results indicate that psoriasis is of autosomal dominant inheritance and incomplete phenotype.
認為銀屑病屬于常染色體顯性遺傳,伴不全表現。
From all these characteristics autosomal dominant inheritance was unambiguously established.
上述特征完全符合常染色體顯性遺傳的特點。
We think that the vitiligo in the family history is caused by autosomal dominant inheritance.
作者認為該家系的白癜風為常染色體顯性遺傳。
The transmission accords with autosomal dominant inheritance.
符合常染色體顯性遺傳。
Conclusions The autosomal dominant inheritance is often incomplete. The clinical feature is often complicated as the neoplasm in the concerned glands might not develop simultaneously.
結 論此種常染色體顯性遺傳病可出現外顯不全,所累及腺體并不同時發病使臨 床症狀複雜。
Conclusion :The family investigation suggested that the formation of cup-ear was determined by the cup-ear gene of an affected parent and it was an autosomal dominant inheritance.
結論 :杯狀耳的形成是由父母雙方中一方杯狀耳基因決定的,家系分析顯示為常染色體顯性遺傳。
Connective tissue nevi are uncommon hamartomas that may be acquired or may manifest an autosomal dominant pattern of inheritance.
結締組織痣是一種很少見的的錯構瘤,可能與常染色體顯性遺傳有關。
常染色體顯性遺傳(autosomal dominant inheritance)是單基因遺傳病的一種主要傳遞方式,其核心特征是緻病基因位于常染色體上,且顯性等位基因隻需單個拷貝即可引發表型表達。根據美國國家醫學圖書館的遺傳學資料庫,當父母一方攜帶顯性緻病基因時,子代有50%的概率通過遺傳獲得該基因并患病,無論性别如何。例如亨廷頓舞蹈症和馬凡綜合征均通過此模式傳遞,患者通常表現出代際連續發病的特征,即每代都可能出現病例,這與隱性遺傳的隔代傳遞形成鮮明對比。
該遺傳模式的關鍵特點包括:
值得注意的是,《醫學遺傳學原理》特别強調顯性緻病基因可能源自父系或母系的生殖細胞新發突變,這類突變約占軟骨發育不全病例的80%。臨床診斷時需結合家系圖譜分析與基因檢測,準确區分遺傳性突變與自發突變。
autosomal dominant inheritance 是遺傳學中的專業術語,中文譯為“常染色體顯性遺傳”,具體解釋如下:
綜合含義為:顯性緻病基因位于常染色體上,隻需單個等位基因即可導緻疾病或性狀顯性表現。
如需進一步了解具體疾病或遺傳機制,建議查閱遺傳學教材或權威醫學數據庫。
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