Epidemiological and genetic studies of congenital profound deafness in the general population of Sichuan, China

X. Liu, L. Xu, S. Zhang, Y. Xu

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


People with congenital profound deafness (CPD) were surveyed in the general population of Sichuan. The prevalence was 0.082% (104/126, 876) of the general population, male 0.086%, female 0.078%. There was no significant difference in prevalence between urban and rural populations. However, the population living in the mountains had a much higher prevalence than people from the foothills and plains (P < 0.05). Amongst the nationalities investigated, there were significant differences in prevalence. Non-Chinese, except for Tibetans, presented a significantly higher prevalence than Han Chinese. There was a significantly higher prevalence among the inbred population (0.82%) than among the non-inbred population (0.072%). An effect of parental age was demonstrated, but no effect of birth order was found. There was a significant seasonal variation in prevalence. Inherited cases could account for 71.2% of all cases, of which 92% were autosomal recessive (AR) and 8% autosomal dominant (AD). Heterogeneity in AR was found with at least 8 different loci. The fitness was 60.26%, the coefficient of selection was 0.3974, mutation rate was estimated to be 2.0 x 10-4, and no heterozygote advantage was proven.

Original languageEnglish (US)
Pages (from-to)192-195
Number of pages4
JournalAmerican journal of medical genetics
Issue number2
StatePublished - Nov 7 1994
Externally publishedYes


  • deafness
  • epidemiology
  • general population
  • genetic analysis

ASJC Scopus subject areas

  • Genetics(clinical)


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