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“ Secundum Atrial Septal Defect”, Victor McKusick, Mendelian Inheritance in Man, 1966. 心房中隔缺陷。(ASD1).

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Here I present: “Secundum Atrial Septal Defect”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 心房中隔缺陷。(ASD1).

INTRODUCTION.

Atrial septal defects (ASD) are defined as primum or secundum.

Primum ASD defects are linked to other heart defects of the ventricular septum and mitral valve.

Secundum ASD defects can be a single, small or large hole. They may also be more than one small hole in the septum or wall between the two chambers.

Secundum atrial septal defect (ASD) is a common congenital heart malformation that occurs as an isolated anomaly in 10% of individuals with congenital heart disease. Uncorrected ASD can cause pulmonary overcirculation, right heart volume overload, and premature death.


Atrial septal defect secundum-type (ASD1) locus has been mapped to cytogenetic location 5p and genomic coordinates 5:1-48,800,001. The screenshot of the ASD1 gene 48,800,001 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides ASD1 in the 5p cytogenetic location are listed BENEATH.  








Coordinate  Symbol  Genomic Name
5:1 ASD1 Atrial septal defect 1
5:1 BCC3 Basal cell carcinoma, susceptibility to, 3
5:1 GLM8 Glioma susceptibility 8
5:1 LNCR3 Lung cancer susceptibility 3
5:1 MHS6 Malignant hyperthermia susceptibility 6
5:1 MYP16 Myopia 16
5:1 TST2 Tuberculin skin test reactivity quantitative trait locus
5:92,168  PLEKHG4B Pleckstrin homology domain- and RhoGEF protein G4B
5:218,320  SDHA Succinate dehydrogenase, flavoprotein subunit A
5:271,646  PDCD6 Programmed cell death 6

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