Terms and Definitions
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 核型
- karyotype
- The situation in which the presumed mother of a particular individual is not the biological mother
- 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
- 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
- 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
- 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
- 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
- 定量PCR
- quantitative PCR
- The situation in which the presumed mother of a particular individual is not the biological mother
- 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
- 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
- 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
- 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
- 可变的表现度
- variable expressivity
- The situation in which the presumed mother of a particular individual is not the biological mother
- 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