oculocutaneous albinism

Objective To investigate gene mutations of a consanguineous family with two oculocutaneous albinism(OCA)patients.

目的在DNA水平上对1个有2例患者的姨表兄妹近亲婚配家系中的眼皮肤白化病患者进行分型诊断。

Part 1 Gene diagnosis of oculocutaneous albinismObjective To identify the mutations of tyrosinase gene (TYR) and P gene in patients with oculocutaneous albinism.

第一部分眼皮肤白化病的基因诊断目的对三例眼皮肤白化病(Oculocutaneous albinism，OCA)患者进行基因诊断，研究眼皮肤白化病Ⅰ、Ⅱ型相关基因，即酪氨酸酶基因(tyrosinase，TYR)和P基因的基因突变。

In this study, we will analyze the molecular basis on oculocutaneous albinism type 1 and Prader-Willi syndrome.

本研究分别对眼皮肤白化病Ⅰ型(oculocutaneous albinism type 1，OCA1)和Prader-Willi综合征(Prader-Willi syndrome，PWS)这两种遗传性疾病的分子基础进行了研究和探讨。

In this study,we will analyze the molecular basis and mutations\' nosogenesis on oculocutaneous albinism type 1.

本研究对眼皮肤白化病Ⅰ型(oculocutaneous albinismtype 1,OCA1)的分子基础及其突变致病性进行研究和探讨。

SNPs in the gene MATP of oculocutaneous albinism type 4 and skin color

眼皮肤白化病Ⅳ型基因MATP的SNPs与皮肤颜色

The Molecular Basis of Oculocutaneous Albinism Type 1 and Prader-Willi Syndrome;

眼皮肤白化病Ⅰ型和Prader-Willi综合征分子基础的初步研究

Significance of Gene Diagnosis and Prenatal Diagnosis for Oculocutaneous Albimism TypeⅠ(OCA1)

眼皮肤白化病Ⅰ型的基因诊断及产前诊断的意义

a person with albinism: white hair and pink eyes and milky skin.

有白化病的人；白色的头发、粉红色的眼睛和乳白色的皮肤。

"Albinism: ABsence of the pigment melanin in the eyes, skin, hair, scales, or feathers."

白化病: 指双眼、皮肤、毛发、鳞片、羽毛等缺乏黑色素的情况。

" Albinism： Absence of the pigment melanin in the eyes, skin, hair, scales, or feathers."

白化病:指双眼、皮肤、毛发、鳞片、羽毛等缺乏黑色素的情况。

They have light skin and blue eyes.

他们具有白皮肤蓝眼睛。

Albino: person or animal born with no colouring pigment in the skin and hair(which are white)and the eyes(which are pink)

患白化病的人或动物（先天色素缺乏患者,皮肤毛发呈白色,眼呈粉红色）

a chronic skin disease associated with seborrhea and greasy scales on the scalp or eyelids or other parts of the skin.

一种慢性皮肤病多发生在头皮或眼皮上。

A person with fair hair and skin and usually light eyes.

白肤金发碧眼的人具有金色的头发、白皙的皮肤和浅色的眼睛的人

Open wound , skin disease , eye illness are unsuitable to swim.

有开放性伤口、皮肤病、眼疾不宜游泳。

Vitiligo is a skin disease causeing the loss of pigmentation in which patients develop white spot in the skin.

白癫风是一种皮肤病，其患者皮肤失去天然颜色，产生白色斑点。

linear IgA bullous dermatosis,LABD

线状免疫球蛋白A大疱性皮肤病

The Report of Cutaneous Malignant Melanoma Accompanied Vitiligo;

皮肤恶性黑素瘤并发白癜风病例报告

His skin was pale and his eye was odd.

托德的传说，他的皮肤苍白，他的眼睛怪异。

Abnormal dryness, especially of the skin, eyes, or mucous membranes.

干燥病异常的干燥，尤指皮肤、眼睛或粘膜

Analysis of a Case with Oral,Eyes and Balanic Erosions

以口、眼、生殖器皮肤黏膜糜烂为主的病例分析

They used Egyptian kohl for darkening the eyelids, powdered chalk for whitening the skin, and a red colouring matter for the cheeks.

她们用埃及化妆油膏来把眼睑涂黑，用粉来使皮肤洁白，双颊使用红色的物质。