长虫与旧秩序阿米什人群中ADAMTSL4基因的20个基删除有关
Grace Kuang1,2, Baozhong Xin1, Valerie Sency1
1DDC Clinic Center for Special Needs Children, Middlefield, Ohio, USA.
Ophthalmic genetics
|October 3, 2024
概括
一个特定的ADAMTSL4基因突变导致俄俄州圣洗礼家庭罕见的眼睛疾病. 尽管有共同的突变,但患者表现出各种症状,突出显示了高风险群体早期基因查的必要性.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
背景情况:
- 与ADAMTSL4相关的眼睛疾病是一种罕见的自体相衰退性疾病.
- 这项研究侧重于俄俄州一个具有病原性ADAMTSL4基因变异的Anabaptist队列中的基因型和表型发现.
研究的目的:
- 为了调查ADAMTSL4相关眼睛疾病的遗传和临床特征在一个Anabaptist人口.
- 为了确定特定的ADAMTSL4基因序列变异,负责这一队列中的疾病.
主要方法:
- 从临床记录中收集了表型数据.
- 基因分析涉及临床外基因组测序,其次是桑格测序.
主要成果:
- 俄俄州的三个圣洗礼会家庭 (五名患者) 发现具有同卵性递归的ADAMTSL4 20-bp删除 (c.767_786del).
- 患者表现出不同程度的ectopia lentis,其中3人有症状的透镜外置,诊断在5岁左右.
- 其他发现包括持续的瞳孔膜和瞳孔边缘不规则;两名无症状患者在家族查期间发现了轻微的透镜外置.
结论:
- 这是第一个报告在圣洗礼者群体中ADAMTSL4突变的研究.
- 这项研究强调了广泛的临床表现,尽管有共同的遗传突变.
- 建议在高风险人群中进行早期遗传查,以提高意识和患者的治疗结果,因为一些受影响的人可能仍未被诊断出来.
相关概念视频
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:16In-vitro Mutagenesis
To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
02:59Animal Mitochondrial Genetics
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
02:32Exon Recombination
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Exon shuffling follows “splice frame rules.” Each exon has three reading...
01:12Loss of Tumor Suppressor Gene Functions
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...