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常染色体

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Karyotype analysis of two patients with X-autosome translocations indicated that Xp11.2 and Xq22 may be associated with primary amenorrhea.

通过对2例X-常染色体易位携带者的分析,认为Xp11.2和Xq22区域可能与原发性闭经有关。

BACKGROUND: Neonatal-onset multi-system inflammatory disease, a rare autosomal dominantly inherited disease, belongs to a growing spectrum of autoinflammatory diseases, is characterized by urticarial rash, arthropathy, and chronic aseptic meningitis, and is associated with mutations in the cold-induced autoinflammatory gene, CIAS1, the gene that encodes the protein, cryopyrin.

背景:新生儿开始发病的多系统炎性病是一种罕见的常染色体显性遗传性疾病,属于自身炎性疾病逐渐庞大的范畴,表现特征为荨麻疹、关节病和慢性无菌性脑膜炎,它合并有冷刺激诱发的自身炎性基因 CIASI 的突变,该基因是编码蛋白质和 cryopyrin 。

Five patients were alive, they appeared progressive muscular atony and atrophy, especially in shoulder and pelvic girdle, with normal serum creatine kinase and troponin T examination; some patients appeared heart enlargement, arrhythmia, and heart failure.

结论该家系符合常染色体显性遗传的特点;根据患者临床及病理特点,诊断为肢带型肌营养不良症伴心肌损害,以肢带型肌营养不良症ⅠB型可能性大;进一步明确其基因分型需行分子遗传学检查。

Objective To explore the application value of STRs of X-chromosome and autosome in Duo-cases.

目的 探讨X-STR和常染色体STR在二联体亲权鉴定中的应用价值。

Pedigree analysis reveals that it is consistent with autosome dominant inheritance.

用家系法分析,符合常染色体显性遗传。

A disease caused by the presence of two recessive mutant genes on an autosome.

由于常染色体上出现突变基因而导致的疾病。

A disease caused by a dominant mutant gene on an autosome.

由于常染色体突变基因导致的疾病。

X-STR loci were valuable in forensic biology, being not only supplementary to autosome, but also excellent in some specific cases.

X-STR在法医学中具有很好的应用价值,不仅可以成为常染色体STR的重要补充,而且可以解决一些特殊案例的鉴定难题。

It is a common occurrence in dogs and is thought to be a sex-limited autosomal recessive trait.

该疾病常发于犬,并被认为具有限性常染色体隐性遗传特征。

darier's disease is a rare dermatosis with an autosomal dominant mode of inheritance.greasy papules and plaques arise on the seborrheic areas and in the flexures.acantholysis and dyskeratosis are the typical histological findings.

darier病是一种少见的常染色体显性遗传性皮肤病。常在皮脂溢出部位和屈侧皮肤见油腻性丘疹和斑块。棘层松解和角化不良是典型的病理改变。

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With Death guitarist Schuldiner adopting vocal duties, the band made a major impact on the scene.

随着死亡的吉他手Schuldiner接受主唱的职务,乐队在现实中树立了重要的影响。

But he could still end up breakfasting on Swiss-government issue muesli because all six are accused of nicking around 45 million pounds they should have paid to FIFA.

不过他最后仍有可能沦为瑞士政府&议事餐桌&上的一道早餐,因为这所有六个人都被指控把本应支付给国际足联的大约4500万英镑骗了个精光。

Closes the eye, the deep breathing, all no longer are the dreams as if......

关闭眼睛,深呼吸,一切不再是梦想,犹如。。。。。。