专业词汇列表

Terms and Definitions

A · B · C · D · E · F · G · H · I · K · L · M · N · O · P · Q · R · S · T · U · V · W · X

A

受累的
affected
The situation in which the presumed mother of a particular individual is not the biological mother
等位基因
allele
The situation in which the presumed mother of a particular individual is not the biological mother
等位基因频率
allele frequency
The situation in which the presumed mother of a particular individual is not the biological mother
等位基因异质性
allelic heterogeneity
The situation in which the presumed mother of a particular individual is not the biological mother
非生物学母亲
alternate maternity
The situation in which the presumed mother of a particular individual is not the biological mother
非生物学父亲
alternate paternity
The situation in which the presumed mother of a particular individual is not the biological mother
分析物
analyte
The situation in which the presumed mother of a particular individual is not the biological mother
非整倍性
aneuploidy
The situation in which the presumed mother of a particular individual is not the biological mother
遗传早现
anticipation
The situation in which the presumed mother of a particular individual is not the biological mother
德裔犹太人
Ashkenazi Jewish
The situation in which the presumed mother of a particular individual is not the biological mother
常染色体的
autosomal
The situation in which the presumed mother of a particular individual is not the biological mother
常染色体显性遗传
autosomal dominant
The situation in which the presumed mother of a particular individual is not the biological mother
常染色体隐性遗传
autosomal recessive
The situation in which the presumed mother of a particular individual is not the biological mother

B

背景风险
background risk
The situation in which the presumed mother of a particular individual is not the biological mother
碱基对
base pair
The situation in which the presumed mother of a particular individual is not the biological mother
良性变异
benign variant
The situation in which the presumed mother of a particular individual is not the biological mother
双等位基因的
biallelic
The situation in which the presumed mother of a particular individual is not the biological mother

C

携带者
carrier
The situation in which the presumed mother of a particular individual is not the biological mother
携带者频率
carrier rate
The situation in which the presumed mother of a particular individual is not the biological mother
携带者检测
carrier testing
The situation in which the presumed mother of a particular individual is not the biological mother
互补DNA
cDNA
The situation in which the presumed mother of a particular individual is not the biological mother
染色体芯片
chromosomal microarray
The situation in which the presumed mother of a particular individual is not the biological mother
染色体
chromosome
The situation in which the presumed mother of a particular individual is not the biological mother
染色体断裂实验
chromosome breakage studies
The situation in which the presumed mother of a particular individual is not the biological mother
顺式
cis
The situation in which the presumed mother of a particular individual is not the biological mother
编码区
coding region
The situation in which the presumed mother of a particular individual is not the biological mother
比较基因组杂交
comparative genomic hybridization
The situation in which the presumed mother of a particular individual is not the biological mother
复合杂合
compound heterozygous
The situation in which the presumed mother of a particular individual is not the biological mother
先天的
congenital
The situation in which the presumed mother of a particular individual is not the biological mother
近亲婚配的
consanguineous
The situation in which the presumed mother of a particular individual is not the biological mother
近亲婚配
consanguinity
The situation in which the presumed mother of a particular individual is not the biological mother
邻近基因缺失
contiguous gene deletion
The situation in which the presumed mother of a particular individual is not the biological mother
邻近基因缺失综合征
contiguous gene deletion syndrome
The situation in which the presumed mother of a particular individual is not the biological mother
拷贝数变异
copy number variant
The situation in which the presumed mother of a particular individual is not the biological mother
关键区域
critical region
The situation in which the presumed mother of a particular individual is not the biological mother
定制产前检测致病变异
custom prenatal testing
The situation in which the presumed mother of a particular individual is not the biological mother
定制化检测项目
custom testing
The situation in which the presumed mother of a particular individual is not the biological mother
细胞遗传的
cytogenetic
The situation in which the presumed mother of a particular individual is not the biological mother

D

新生的
de novo
The situation in which the presumed mother of a particular individual is not the biological mother
缺失
deletion
The situation in which the presumed mother of a particular individual is not the biological mother
缺失/重复分析
deletion/duplication analysis
The situation in which the presumed mother of a particular individual is not the biological mother
缺失综合征
deletion syndrome
The situation in which the presumed mother of a particular individual is not the biological mother
双基因的
digenic
The situation in which the presumed mother of a particular individual is not the biological mother
结构域
domain
The situation in which the presumed mother of a particular individual is not the biological mother
显性负效
dominant-negative
The situation in which the presumed mother of a particular individual is not the biological mother
重复
duplication
The situation in which the presumed mother of a particular individual is not the biological mother
变形的
dysmorphic
The situation in which the presumed mother of a particular individual is not the biological mother

E

外显子组
exome
The situation in which the presumed mother of a particular individual is not the biological mother
外显子组测序
exome sequencing
The situation in which the presumed mother of a particular individual is not the biological mother
外显子
exon
The situation in which the presumed mother of a particular individual is not the biological mother

F

家族性
familial
The situation in which the presumed mother of a particular individual is not the biological mother
一级亲属
first-degree relative
The situation in which the presumed mother of a particular individual is not the biological mother
荧光原位杂交
FISH
The situation in which the presumed mother of a particular individual is not the biological mother
荧光原位杂交
fluorescent in situ hybridization
The situation in which the presumed mother of a particular individual is not the biological mother
建立者效应
founder effect
The situation in which the presumed mother of a particular individual is not the biological mother
建立者突变
founder mutation
The situation in which the presumed mother of a particular individual is not the biological mother
建立者变异
founder variant
The situation in which the presumed mother of a particular individual is not the biological mother
移码变异
frameshift variant
The situation in which the presumed mother of a particular individual is not the biological mother
完全外显等位基因
full-penetrance allele
The situation in which the presumed mother of a particular individual is not the biological mother

G

功能获得性
gain-of-function
The situation in which the presumed mother of a particular individual is not the biological mother
基因组DNA
gDNA
The situation in which the presumed mother of a particular individual is not the biological mother
基因
gene
The situation in which the presumed mother of a particular individual is not the biological mother
基因转换
gene conversion
The situation in which the presumed mother of a particular individual is not the biological mother
基因产物
gene product
The situation in which the presumed mother of a particular individual is not the biological mother
基因治疗
gene therapy
The situation in which the presumed mother of a particular individual is not the biological mother
遗传咨询
genetic counseling
The situation in which the presumed mother of a particular individual is not the biological mother
基因组测序
genome sequencing
The situation in which the presumed mother of a particular individual is not the biological mother
基因组的
genomic
The situation in which the presumed mother of a particular individual is not the biological mother
基因型
genotype
The situation in which the presumed mother of a particular individual is not the biological mother
基因型-表型相关性
genotype-phenotype correlation
The situation in which the presumed mother of a particular individual is not the biological mother
基因分型
genotyping
The situation in which the presumed mother of a particular individual is not the biological mother
胚系
germline
The situation in which the presumed mother of a particular individual is not the biological mother
胚系嵌合
germline mosaicism
The situation in which the presumed mother of a particular individual is not the biological mother
胚系变异
germline variant
The situation in which the presumed mother of a particular individual is not the biological mother
生殖腺嵌合
gonadal mosaicism
The situation in which the presumed mother of a particular individual is not the biological mother

H

单倍体
haploid
The situation in which the presumed mother of a particular individual is not the biological mother
单倍剂量不足
haploinsufficiency
The situation in which the presumed mother of a particular individual is not the biological mother
半合子的
hemizygous
The situation in which the presumed mother of a particular individual is not the biological mother
线粒体DNA异质的
heteroplasmic
The situation in which the presumed mother of a particular individual is not the biological mother
线粒体DNA异质性
heteroplasmy
The situation in which the presumed mother of a particular individual is not the biological mother
杂合子
heterozygote
The situation in which the presumed mother of a particular individual is not the biological mother
杂合的
heterozygous
The situation in which the presumed mother of a particular individual is not the biological mother
线粒体DNA同质的
homoplasmic
The situation in which the presumed mother of a particular individual is not the biological mother
线粒体DNA同质性
homoplasmy
The situation in which the presumed mother of a particular individual is not the biological mother
纯合性
homozygous
The situation in which the presumed mother of a particular individual is not the biological mother
热点
hot spot
The situation in which the presumed mother of a particular individual is not the biological mother
功能下降的
hypomorphic
The situation in which the presumed mother of a particular individual is not the biological mother

I

印记的
imprinted
The situation in which the presumed mother of a particular individual is not the biological mother
印记
imprinting
The situation in which the presumed mother of a particular individual is not the biological mother
失活
inactivating
The situation in which the presumed mother of a particular individual is not the biological mother
插入缺失
indel
The situation in which the presumed mother of a particular individual is not the biological mother
非移码
in-frame
The situation in which the presumed mother of a particular individual is not the biological mother
插入
insertion
The situation in which the presumed mother of a particular individual is not the biological mother
家系间差异
interfamilial variability
The situation in which the presumed mother of a particular individual is not the biological mother
家系内差异
intrafamilial variability
The situation in which the presumed mother of a particular individual is not the biological mother
内含子
intron
The situation in which the presumed mother of a particular individual is not the biological mother
内含子的
intronic
The situation in which the presumed mother of a particular individual is not the biological mother
等电点聚焦
isoelectric focusing
The situation in which the presumed mother of a particular individual is not the biological mother
异型体
isoforms
The situation in which the presumed mother of a particular individual is not the biological mother
孤立的
isolated
The situation in which the presumed mother of a particular individual is not the biological mother

K

核型
karyotype
The situation in which the presumed mother of a particular individual is not the biological mother

L

可能的良性变异
likely benign variant
The situation in which the presumed mother of a particular individual is not the biological mother
可能的致病变异
likely pathogenic variant
The situation in which the presumed mother of a particular individual is not the biological mother
位点
locus
The situation in which the presumed mother of a particular individual is not the biological mother
位点名称
locus name
The situation in which the presumed mother of a particular individual is not the biological mother
功能丧失性
loss-of-function
The situation in which the presumed mother of a particular individual is not the biological mother
杂合性丢失
loss of heterozygosity
The situation in which the presumed mother of a particular individual is not the biological mother

M

显性杂合子
manifesting heterozygote
The situation in which the presumed mother of a particular individual is not the biological mother
甲基化
methylation
The situation in which the presumed mother of a particular individual is not the biological mother
甲基化分析
methylation analysis
The situation in which the presumed mother of a particular individual is not the biological mother
微缺失综合征
microdeletion syndrome
The situation in which the presumed mother of a particular individual is not the biological mother
微卫星
microsatellite
The situation in which the presumed mother of a particular individual is not the biological mother
错配碱基修复
mismatch repair
The situation in which the presumed mother of a particular individual is not the biological mother
错义
missense
The situation in which the presumed mother of a particular individual is not the biological mother
线粒体遗传
mitochondrial inheritance
The situation in which the presumed mother of a particular individual is not the biological mother
遗传模式
mode of inheritance
The situation in which the presumed mother of a particular individual is not the biological mother
分子遗传学检测
molecular genetic testing
The situation in which the presumed mother of a particular individual is not the biological mother
单体性
monosomy
The situation in which the presumed mother of a particular individual is not the biological mother
嵌合
mosaicism
The situation in which the presumed mother of a particular individual is not the biological mother
信使RNA
mRNA
The situation in which the presumed mother of a particular individual is not the biological mother
多因素的
multifactorial
The situation in which the presumed mother of a particular individual is not the biological mother
表型靶向检测
multi-gene panel
The situation in which the presumed mother of a particular individual is not the biological mother

N

新生儿筛查
newborn screening
The situation in which the presumed mother of a particular individual is not the biological mother
新一代测序
next-generation sequencing (NGS)
The situation in which the presumed mother of a particular individual is not the biological mother
非等位同源重组
non-allelic homologous recombination
The situation in which the presumed mother of a particular individual is not the biological mother
无义
nonsense
The situation in which the presumed mother of a particular individual is not the biological mother
正常变异
normal variant
The situation in which the presumed mother of a particular individual is not the biological mother
核苷酸重复
nucleotide repeat
The situation in which the presumed mother of a particular individual is not the biological mother
无效
null
The situation in which the presumed mother of a particular individual is not the biological mother

O

肯定携带者
obligate carrier
The situation in which the presumed mother of a particular individual is not the biological mother
肯定杂合子
obligate heterozygote
The situation in which the presumed mother of a particular individual is not the biological mother
寡基因的
oligogenic
The situation in which the presumed mother of a particular individual is not the biological mother
开放阅读框架
open reading frame
The situation in which the presumed mother of a particular individual is not the biological mother

P

致病性变异
pathogenic variant
The situation in which the presumed mother of a particular individual is not the biological mother
聚合酶链式反应
PCR
The situation in which the presumed mother of a particular individual is not the biological mother
家系
pedigree
The situation in which the presumed mother of a particular individual is not the biological mother
外显率
penetrance
The situation in which the presumed mother of a particular individual is not the biological mother
表型
phenotype
The situation in which the presumed mother of a particular individual is not the biological mother
多基因的
polygenic
The situation in which the presumed mother of a particular individual is not the biological mother
聚合酶链式反应
polymerase chain reaction
The situation in which the presumed mother of a particular individual is not the biological mother
多态性
polymorphism
The situation in which the presumed mother of a particular individual is not the biological mother
合子后
post-zygotic
The situation in which the presumed mother of a particular individual is not the biological mother
植入前遗传诊断
preimplantation genetic diagnosis
The situation in which the presumed mother of a particular individual is not the biological mother
前突变
premutation
The situation in which the presumed mother of a particular individual is not the biological mother
产前诊断
prenatal diagnosis
The situation in which the presumed mother of a particular individual is not the biological mother
私有的
private
The situation in which the presumed mother of a particular individual is not the biological mother
先证者
proband
The situation in which the presumed mother of a particular individual is not the biological mother
启动子区
promoter region
The situation in which the presumed mother of a particular individual is not the biological mother
拟显性遗传
pseudodominant inheritance
The situation in which the presumed mother of a particular individual is not the biological mother
假基因
pseudogene
The situation in which the presumed mother of a particular individual is not the biological mother

Q

定量PCR
quantitative PCR
The situation in which the presumed mother of a particular individual is not the biological mother

R

重组
recombination
The situation in which the presumed mother of a particular individual is not the biological mother
再发风险
recurrence risk
The situation in which the presumed mother of a particular individual is not the biological mother
反复发生的缺失
recurrent deletion
The situation in which the presumed mother of a particular individual is not the biological mother
外显下降的等位基因
reduced-penetrance allele
The situation in which the presumed mother of a particular individual is not the biological mother
罗伯逊易位
Robertsonian translocation
The situation in which the presumed mother of a particular individual is not the biological mother

S

Sanger 测序
Sanger sequencing
The situation in which the presumed mother of a particular individual is not the biological mother
二级亲属
second-degree relative
The situation in which the presumed mother of a particular individual is not the biological mother
分离
segregation
The situation in which the presumed mother of a particular individual is not the biological mother
敏感性
sensitivity
The situation in which the presumed mother of a particular individual is not the biological mother
序列改变
sequence alteration
The situation in which the presumed mother of a particular individual is not the biological mother
序列分析
sequence analysis
The situation in which the presumed mother of a particular individual is not the biological mother
单发的
simplex
The situation in which the presumed mother of a particular individual is not the biological mother
单碱基变异
single-nucleotide variant
The situation in which the presumed mother of a particular individual is not the biological mother
姐妹染色单体互换
sister chromatid exchange
The situation in which the presumed mother of a particular individual is not the biological mother
单碱基多态性芯片
SNP array
The situation in which the presumed mother of a particular individual is not the biological mother
体细胞嵌合
somatic mosaicism
The situation in which the presumed mother of a particular individual is not the biological mother
体细胞致病性变异
somatic pathogenic variant
The situation in which the presumed mother of a particular individual is not the biological mother
Southern印迹
Southern blot
The situation in which the presumed mother of a particular individual is not the biological mother
剪接位点
splice site
The situation in which the presumed mother of a particular individual is not the biological mother
剪接
splicing
The situation in which the presumed mother of a particular individual is not the biological mother
散发性
sporadic
The situation in which the presumed mother of a particular individual is not the biological mother
综合征性
syndromic
The situation in which the presumed mother of a particular individual is not the biological mother

T

致病变异的靶向分析
targeted analysis for pathogenic variants
The situation in which the presumed mother of a particular individual is not the biological mother
靶性性突变分析
targeted mutation analysis
The situation in which the presumed mother of a particular individual is not the biological mother
反式
trans
The situation in which the presumed mother of a particular individual is not the biological mother
转录因子
transcription factor
The situation in which the presumed mother of a particular individual is not the biological mother
易位
translocation
The situation in which the presumed mother of a particular individual is not the biological mother
三基因的
trigenic
The situation in which the presumed mother of a particular individual is not the biological mother
三核苷酸重复
trinucleotide repeat
The situation in which the presumed mother of a particular individual is not the biological mother
三体性自救
trisomy rescue
The situation in which the presumed mother of a particular individual is not the biological mother

U

意义不确定
uncertain significance
The situation in which the presumed mother of a particular individual is not the biological mother
不等互换
unequal crossing over
The situation in which the presumed mother of a particular individual is not the biological mother
单亲二体性
uniparental disomy
The situation in which the presumed mother of a particular individual is not the biological mother
意义未明
unknown significance
The situation in which the presumed mother of a particular individual is not the biological mother

V

可变的表现度
variable expressivity
The situation in which the presumed mother of a particular individual is not the biological mother

W

全外显子组测序
whole-exome sequencing
The situation in which the presumed mother of a particular individual is not the biological mother
全基因组测序
whole-genome sequencing
The situation in which the presumed mother of a particular individual is not the biological mother
野生型
wild-type
The situation in which the presumed mother of a particular individual is not the biological mother

X

X染色体失活
X-chromosome inactivation
The situation in which the presumed mother of a particular individual is not the biological mother
X连锁
X-linked
The situation in which the presumed mother of a particular individual is not the biological mother
X连锁显性
X-linked dominant
The situation in which the presumed mother of a particular individual is not the biological mother
X连锁隐性
X-linked recessive
The situation in which the presumed mother of a particular individual is not the biological mother