Non-syndromic cleft lip related low-frequency/rare mutation and detection method thereof

A syndrome and cleft lip technology, applied in the field of biomedicine, can solve problems such as large psychological, social and economic burdens, and achieve high-sensitivity effects

Pending Publication Date: 2020-06-26
AFFILIATED STOMATOLOGICAL HOSPITAL OF NANJING MEDICAL UNIV
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

Although CLP is no longer associated with mortality in high-income countries, multiple surgeries are necessary to corre

Method used

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  • Non-syndromic cleft lip related low-frequency/rare mutation and detection method thereof
  • Non-syndromic cleft lip related low-frequency/rare mutation and detection method thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0030] According to the detailed medical history and family history investigation, standardized oral examination and related auxiliary examination information, a CLO (non-syndromic cleft lip) family was selected. The pedigree is as follows: figure 1 As shown, the family members performed disease-causing gene detection and analysis under the condition that they signed the informed consent.

[0031] (1) Extraction of DNA.

[0032] The genomic DNA of each research subject was extracted by QIAGEN kit, and the genomic DNA was obtained after isopropanol precipitation. After the DNA precipitation was dissolved in AE to determine the concentration, it was diluted and stored in a -20°C refrigerator for future use.

[0033] (2) DNA quality testing.

[0034] 1% agarose electrophoresis to detect whether the DNA sample has degradation and impurities; Spectrophotometer to detect sample purity (IMPLEN, CA, USA); 3.0 Fluorometer (Life Technologies, CA, USA) was used to detect the concent...

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Abstract

The invention discloses a non-syndromic cleft lip related low-frequency/rare mutation and a detection method thereof. The TAF11 gene mutation is single point mutation c.G144C (chr6:34855591) in a first exon region, the amino acid is changed into p.L48F, and heterozygous mutation is pathogenic. The pathogenic mutation provided by the invention is not reported to be related to the occurrence and development of the non-synthetic cleft lip, and can provide a basis for the screening and detection of disease-causing genes and the formulation of treatment programs of non-syndromic cleft lip. At the same time, the invention constructs a disease-causing gene detection method. The method comprises the following steps: capturing and enriching DNA in a whole genome exon region by using a sequence capture technology, performing high-throughput sequencing, performing bioinformatics analysis and co-separation analysis to screen out candidate genes, and performing Sanger sequencing to verify the mutation.

Description

technical field [0001] The invention belongs to the field of biomedicine, and relates to a low-frequency rare mutation related to non-syndromic cleft lip and a detection method thereof. Background technique [0002] Cleft lip and palate (CL / P) is the most common type of congenital developmental malformation of the craniofacial region. There is 1 case of CL / P in every 700 newborns. The disease types include simple cleft lip and cleft lip with cleft palate. Cleft lip (CLO) accounts for about 25%. Although CLP is no longer associated with mortality in high-income countries, multiple surgeries are necessary to correct cleft lip and palate and its attendant problems, resulting in considerable psychological, social, and economic burdens. According to whether it is accompanied by other structural abnormalities, it can be divided into syndromic cleft lip and palate (SCL / P) and non-syndromic cleft lip and palate (NSCL / P). 70% of the total number of patients with / P is also a hotspo...

Claims

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Application Information

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IPC IPC(8): C12N15/12C12Q1/6883C12Q1/6869C12N15/11
CPCC07K14/47C12Q1/6883C12Q1/6869C12Q2600/156C12Q2535/122C12Q2535/101
Inventor 潘永初于鑫姚思玥杨帆
Owner AFFILIATED STOMATOLOGICAL HOSPITAL OF NANJING MEDICAL UNIV
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