HFEA批准的可用于PGD基因检测的遗传病清单-柠檬医猎

HFEA批准的可用于PGD基因检测的遗

传病清单

清单内容

Pre-implantation genetic diagnosis (PGD) is a technique that enables people with a specific inherited condition in their family to avoid passing it on to their children. It involves checking the genes of embryos created through IVF for this genetic condition.

移植前基因检测时是有特殊遗传疾病的患者可以避免遗传给下一代的技术.他是检查IVF过程中的胚胎基因.

Before PGD clinics are permitted to test for a condition or combination of conditions, the HFEA must first agree that the condition they want to test for is sufficiently serious. This list of conditions are those that the HFEA has so far agreed that it is acceptable for clinics to use PGD to test for.

在诊所获准检查某些基因前,这些他们想检测的状况必须是重要的,并且首先要被HFEA许可.下面的清单就是目前被HFEA许可检查的项目.

OMIM编号

OMIM stands for ‘Online Mendelian Inheritance in Man.’ An OMIM number is a way of cataloguing human genes and genetic conditions.

OMIM是指孟德尔人类遗传在线,OMIM号是编目人类基因和遗传条件的方法.

The HFEA, when approving genetic conditions for PGD, asks clinics to provide the relevant OMIM number for that condition. This ensures that the HFEA, the clinic, and any prospective patients can be clear about the conditions which have been approved for PGD.

当HFEA认证PGD的检查内容时,要求诊所提供病患所涉及的OMIM号码.这样确保HFEA,诊所和病人能清楚地知道哪个病症是被允许使用PGD检测的.

被HFEA获准检测的遗传病症以及对应的OMIM编号

1

(PIGN gene) Multiple Congenital

Anomalies Hypotonia – Seizures

Syndrome 1

（Pign基因）多种先天性异常的肌

张力–癫痫综合征1

614080 2

5 Alpha Reductase Deficiency

(5ARD) insofar as that condition

affects males, with simultaneous

sex determination

5α-还原酶缺乏症（5ard）只要条件

对男性产生影响，同时性的测

264600 3

Abetalipoproteinemia (also known

as aconthocytosis, microsomal

triglyceride transfer protein

deficiency and Bassen-Kornweig

syndrome)

无β脂蛋白血症（也被称为

aconthocytosis，微粒体甘油三酯转

运蛋白缺陷和先天kornweig综合征

200100

4 Achondrogenesis Type 1a 软骨病1A型 600972

5 Achondroplasia 软骨发育不全 100800

6 Acute Intermittent Porphyria 急性间歇性卟啉病 176000

7

Acute Recurrent Autosomal

Recessive Rhabdomyolysis

(ARARRM)

急性复发性常染色体隐性遗传的横

纹肌溶解（ararrm）

268200 8

Adrenoleukodystrophy

(Adrenomyeloneuropathy)

肾上腺脑白质营养不良（肾上腺） 300100

9 Agammaglobulinaemia (x-linked) （X连锁无丙种球蛋白血症） 300755

10

Agammaglobulinemia Bruton

Tyrosine Kinase (BTK)

无丙种球蛋白血症布鲁顿酪氨酸激

酶（BTK）

300300

11

Aicardi Goutieres Syndrome 1

(AGS1)

goutieres Aicardi综合征1（AGS1）225750

12 Alagille Syndrome Alagille综合征118450

13 Alpers Syndrome Alpers综合征203700

14 Alpha-1-antitrypsin deficiency α1-抗胰蛋白酶缺乏

+107400 (where two Z

alleles are inherited)

15 Alpha-Mannosidosis α-甘248500

16

Alpha Thalassaemia/mental

retardation Syndrome*

α地中海贫血/智力低下综合征301040

17 Alpha Thalassemia α-地中海贫141800

18 Alport Syndrome Alport综合征203780

19 Alports Syndrome Alport综合征301050

20

Alports Syndrome (Autosomal

Dominant)

Alport综合征（常染色体显性遗传）104200

21

Alzheimer's Disease - early onset

(Type 3 and 4)

阿尔茨海默病-早发（3型和4型）607822/ 606889

22 Alzheimers Disease - early onset 老年痴呆症早期发病 104300