autosomal

autosomal

1. In 2 n =12, all the red forms of the aphids have translocations of autosomal 1 and 3, but the yellowish-green forms contain autosomal 1 and 3 translocated individuals as well as normal karyotype ones.

3n =18,A1与A3 易位 . 同时 ,在核型为 2n =12的烟蚜中 ,体色为红色的个体全为A1与A3 易位个体 ,体色为绿色的个体中既有A1与A3 易位个体 ,又有正常个体 .

2. The petaloid toenail was found to have feature of autosomal dominant inheritance by analyzing the data of 85 nuclear families and two integrity families with three generations. 8.

7. 通过对85个核心家系和两个完整的三代家系的系谱分析发现，瓣状甲是一种常染色体显性性状。

3. Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disease characterized by left ventricular hypertrophy, myofibrillar disarray, and sudden cardiac death.

a心肌肥大症（FHC）是一种体染色体显性遗传的疾病，主要症状为左心室肥大、心肌排列不整，甚至导致猝死。

4. Fanconi anemia(FA) is a rare autosomal recessive di sorder characterized clinically by congenital abnormalities, progressive bone ma rrow failure and cancer susceptibility.

Fanconi氏贫血是一种罕见的常染色体隐性遗传性疾病,表现为进行性骨髓衰竭、先天性骨骼畸形和易患癌症等。

5. HHT is an autosomal dominant disordercharacterized by vascular dysplasia.

HHT是常染色体显性遗传性血管发育异常的一种疾病。

6. Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance.It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin.

I型神经纤维瘤是一种常见的高外显率的常染色体显性遗传病，编码神经纤维蛋白的抑癌基因NF1的突变能导致I型神经纤维瘤。

7. PCSK9 has many sequence variations. Several missense mutations(e.g.S127R and F216L)in PCSK9 are associated with an autosomal dominant form of hypercholesterolemia(ADH).

PCSK9基因有多种序列变异,如错义突变S127R和F216L可引起常染色体显性高胆固醇血症;

8. SM is often inherited as an autosomal dominant trait of pachyonychia congenita type 2.The presence of multiple pilosebaceous cyst in PC-2 is the predominant feature distinguishing PC-2 from PC-1.

SM也可为多种综合征的一种表现，如先天性厚甲症-2 型(pachyonychia congenita-2 ,PC-2型)，多发性皮脂腺囊肿是PC-2型与PC-1型鉴别的主要特征。

9. TBX5 mutations could cause Holt-Oram syndrome,an autosomal dominant condition characterized by congenital cardiac malformations and upper limb anomalies.

TBX5基因突变可引起心手综合征,后者是以先天性心脏和上肢畸形为特点的常染色体显性遗传病。

10. A Family History of Vitiligo with Autosomal Dominant Inheritance

一个常染色体显性遗传白癜风家系

11. Some members of the patient s family were similarly affected and indicated an autosomal dominant trait of inheritance.

一些亲属亦有类似病症，显示是体显性遗传模式。

12. There are three kinds of inherited patterns including autosomal dominant,autosomal recessive and X-linked recessive in inherited congenital cataract.

与遗传有关的先天性白内障有多种遗传方式,其致病基因、基因突变的位点和引起先天性白内障的表现型相继被发现。

13. Harlequin ichthyosis （HI）is a severe subtype of autosomal recessive congenital ichthyoses (ARCI).

丑角样鱼鳞病是常染色体隐性遗传性鱼鳞病的一种严重亚型。

14. There are 24 distinct human chromosomes: 22 autosomal chromosomes, plus the sex-determining X and Y chromosomes.

人类拥有24种不同的染色体，其中有22个属于体染色体，另外还有两个能够决定性别的性染色体，分别是X染色体与Y染色体。

15. Autosomal Anomalies of Malformed Spermatozoa in Human

人类畸形精子与常染色体异常

16. It is usually inherited as an autosomal dominant trait, although autosomal recessive and X-linked inheritance are seen less commonly.

人群中，大部分遗传性白内障是外显率较高的常染色体显性遗传，但也有X连锁和常染色体隐性遗传存在。

17. Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset disorder characterized by progressive cyst development and bilaterally enlarged kidneys with multiple cysts.

什么是'常染色体显性多囊肾病-遗传性疾病导致流体填补蛀牙肾脏'?

18. Autosomal recessive polycystic kidney disease (ARPKD) is much rarer than ADPKD and is often lethal.The signs and symptoms of the condition are usually apparent at birth or in early infancy.

什么是'常染色体隐性遗传性多囊肾病-遗传性肾脏疾病造成流体填补蛀牙在婴儿期'?

19. Peutz-Jeghers, also known as Hereditary Intestinal Polyposis Syndrome, is an autosomal dominant genetic disease.

什么是'黑斑息肉综合征-多生长在肠道'?

20. Dentin dysplasia is a genetic disorder of teeth, commonly exhibiting an autosomal dominant inheritance.

什麽是'牙本质发育异常-牙本质发育异常'?

21. Apparent mineralocorticoid excess is an autosomal recessive cause of hypertension and hypokalaemia which responds to glucocorticoid treatment.

什麽是'表观盐皮质激素过多-遗传疾病导致血压高'?

22. It can be autosomal dominant, autosomal recessive, or X-linked mode of inheritance.

他可以是体染色体显性、体染色体隐性、或是性联遗传等方式的遗传疾病。

23. We think that the vitiligo in the family history is caused by autosomal dominant inheritance.

作者认为该家系的白癜风为常染色体显性遗传。

24. Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance.

先天性小眼球是一种先天发育异常性眼科疾病,遗传方式有常染色体显性遗传、常染色体隐性遗传和X连锁隐性遗传。

25. Congenital fibrosis of extraocular muscle (CFEOM) is a rare autosomal hereditary disorder.The clinical phenotypes are varied.

先天性广泛性眼外肌纤维化(CFEOM)是一种罕见的常染色体遗传病,其临床表现各异,遗传方式不一,至今病因尚不完全清楚。

26. Autosomal dominant congenital cataract (ADCC) is a clinically and genetically heterogeneous lens disorder that is usually considered to be a sight-threatening trait in childhood.

先天性白内障是儿童常见的致盲眼病,由于晶状体混浊的部位形态和程度不同,常又合并其他眼病和异常,所以视力障碍的程度不同。

27. A Six-generation Family with Autosomal Dominant Deafness Passed Along: Possibly A New Locus?

六代相传显性遗传耳聋大家系:一个可能的新基因座?

28. Many studies have focused on the DFNA5 gene because it is one of the disease genes of autosomal dominant non-syndromic hearing impairment and it is also associated with melanoma and breast cancer.

其中，对该家族的DFNA5基因研究报道相对较多，它是常染色体显性非综合征性耳聋致病基因之一，并可能与黑色素瘤和乳腺癌相关。

29. Noonan syndrome is defined as an autosomal dominant genetic syndrome commonly characterized by short stature, congenital heart defects, and unique facial features.

努南综合症被定义为一种常染色体显性的遗传性综合症，其一般特征为身材矮小、先天性心脏缺损、以及独特的面部特征。

30. Autosomal dominant epidermolysis bullosa simplex

单纯常染色体显性大疱性表皮松解

31. Autosomal dominant deficiency of profibrinolysin

原纤维蛋白溶解素常染色体显性缺乏

32. Certain autosomal translocations in the heterozygous state can be fully viable.

呈杂合子状态的某些常染色体易位完全可以生活的。

33. The recurrence risk for this disease is, of course, 25% because of the autosomal recessive inheritance pattern.

因为它是常染色体隐性遗传的，所以它在家族中的发病率是25%。

34. Germ cell specific autosomal versions of several genes located on the X chromosome are activated during this period, thus circumventing the problem that would arise from their silencing .

在此期间，位于X染色体上的生殖细胞特有的染色体形式上的几个基因被激活，从而避免了因为它们的噪声抑制可能引起的问题。

35. In dogs, CA is also usually an autosomal recessive gene, but in a few breeds, such as the English Pointer, the gene is sex-linked.

在犬类中，小脑活力缺失通常是常染色体隐性基因遗传病，但在少数品种中，例如英国指示猎犬，该疾病由性染色体连锁遗传。

36. T he fully formed 20 SC appear as distinct thread-like elements.An Ag-NOR is found in an autosomal SC.

在粗线期可见20条清晰的常染色体联会复合体，其中1条带有呈深黑色的核仁 组织者。

37. Multiple lesions are inherited as an autosomal dominant trait.They usually appear at puberty and are distributed symmetrically over the central area of the face.

多发性毛囊上皮瘤为遗传显性，通常自青少年期出现，好发于颜面中央，呈对称性分布。

38. Multiple carboxylase deficiency (MCD) is an autosomal recessive disorder of inherited metabolic diseases.

多种羧化酶缺陷症(MCD)是一种常染色体隐性遗传的先天遗传代谢性疾病。

39. Most mammals hae just two kinds of photopigment in their retinas: one is encoded in the X chromosome and the other in an autosomal (non-sex) chromosome.

大部分哺乳动物的视网膜中只有两种感光色素：一种编码在X染色体中另一种寸在于正染色体中。

40. It is also caused by mutations in genes associated with autosomal dominant cerebellar ataxia (ADCA), notably CAG/CAA repeat expansions in SCA2.

它还可能由常染色体显性遗传性小脑性共济失调相关基因突变引起，尤其是SCA2中的CAG/CAA重复扩增。

41. Familial hypertrophic cardiomyopathy(FHCM) is a genetically heterogeneous cardiac disease transmitted as an autosomal dominant trait.It is the leading cause of sudden cardiac death(SCD) in youth.

家族性肥厚型心肌病是一种以常染色体显性遗传为特征的具有遗传异质性的心脏疾病,它是年轻人心源性猝死的首要病因。

42. As with familial adenomatous polyposis, the inheritance pattern is autosomal dominant.

家族性腺瘤息肉病的遗传方式是常染色体显性遗传。

43. Benign familial pemphigus （HHD） is a rare autosomal dominant disease caused by mutations in the ATP2C1gene encoding a novel Ca2+ pump.

家族性良性天疱疮是一种少见的常染色体显性遗传性疾病，由ATP2C1基因突变所致。

44. Reticulate pigmented anomaly of the flexures (RPAF, MIM number: 179850), also called Dowling-Degos disease (DDD), is a new rare genodermatosis, which shows an autosomal dominant pattern of inheritance.

屈侧网状色素沉着症(Reticular pigmented anomaly of the flexures，RPAF，OMIM number：179850)又称Dowling-Degos病(Dowling-Degosdisease，DDD)，是一种是一种少见的常染色体显性遗传性皮肤病。

45. Application of autosomal STR genetic markers in siblings identification

常染色体STR遗传标记在同胞鉴定中的应用

46. Autosomal hypophosphatemic bone disease

常染色体低磷酸盐血性骨疾病

47. autosomal dominant(inheritance)

常染色体显性(遗传)

48. autosomal dominant polycystic kidney

常染色体显性多囊肾

49. Autosomal dominant polycystic kidney disease

常染色体显性多囊肾病

50. Autosomal dominant adult polycystic kidney disease

常染色体显性成人多囊肾疾病

51. autosomal dominant ichthyosis

常染色体显性的干皮病

52. autosomal dominant limb-girdle muscular dystrophy

常染色体显性肢带肌营养不良

53. autosomal dominant retinitis pigmentosa

常染色体显性色素性视网膜炎

54. autosomal dominant motor system degeneration

常染色体显性运动原系统变性

55. autosomal dominant inheritance

常染色体显性遗传

56. Autosomal dominant hypohidrotic ectodermal dysplasia syndrome

常染色体显性遗传型少汗外胚层发育不良综合征

57. Autosomal dominant isolated somatotropin deficiency

常染色体显性遗传孤立性生长激素缺乏

58. autosomal dominant ichthyosis vulgaris

常染色体显性遗传寻常型鱼鳞病

59. autosomal dominant pure cerebellar ataxia

常染色体显性遗传小脑性共济失调

60. Gene mapping of a pedigree with autosomal dominant congenital cataract

常染色体显性遗传性先天性白内障一家系致病基因的初步定位

61. Autosomal dominant polyeystie kidney disease

常染色体显性遗传性多囊肾病

62. Autosomal dominant diabetes mellitus

常染色体显性遗传性糖尿病

63. autosomal dominant inherited disease

常染色体显性遗传病

64. Autosomal dominant analbuminemia

常染色体显性遗传白蛋白血缺乏症

65. autosomal dominant nocturnal frontil lobe epilepsy

常染色体显性遗传的夜间额叶癫痫

66. Autosomal dominant oculocutaneous albinism

常染色体显性遗传眼皮肤白化病

67. Autosomal dominant cerebrovascular amyloidosis

常染色体显性遗传脑血管淀粉样变

68. autosomal dominant nonsyndrome deafness

常染色体显性遗传非综合征型耳聋

69. Autosomal hereditary disorder

常染色体遗传病症

70. Autosomal chromosome mosaicism

常染色体镶嵌现象

71. autosomal recessive(inheritance)

常染色体隐性(遗传)

72. autosomal recessive type hypogammaglobulinemia

常染色体隐性型低丙种球蛋白血症

73. Autosomal recessive infantile polycystic kidney disease

常染色体隐性婴儿多囊肾疾病

74. autosomal recessive vitamin D dependency

常染色体隐性维生素D依赖(症)

75. autosomal recessive limb-girdle muscular dystrophy

常染色体隐性肢带肌营养不良

76. Autosomal recessive lethal osteopetrosis

常染色体隐性致死性骨硬化病

77. autosomal recessive inheritance

常染色体隐性遗传

78. Autosomal recessive hypophosphatemic vitamin D refractory rickets

常染色体隐性遗传低磷酸盐血性维生素D难治性佝偻病

79. Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

常染色体隐性遗传型少汗外胚层发育不良综合征

80. Autosomal recessive isolated somatotropin deficiency

常染色体隐性遗传孤立性生长激素缺乏