A novel missense mutation <scp>nt737T</scp>&gt;G of <scp>JK</scp> gene with Jk(a−b−) phenotype in Chinese blood donors

Ma, Ling; Liu, Y. C.; Zhu, Siquan; Hu, Wei; Chen, X.; Xue, Mei; Luo, Zhongxin; Wu, Minhui; Sun, Jun

doi:10.1111/tme.12185

Cited by 4 publications

(5 citation statements)

References 19 publications

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“…This rare phenotype has been reported with the highest frequency in Polynesians (0·1–1·4%). In the Chinese populations, the frequency of JK(a‐b‐) in the southern regions is about 1:5000 (10/50 000 in Guangzhou), which is higher than some other reported regions (1:20 000 in Changchun ; 1:25 000 (4/102 760 and 2/48 400) in Shanghai ; 1:17000–1:20 000 (3/52 260 to 2/40 337 ) in Nanjing; not found (0/23 909) in Zhejiang ) using the red blood cell urea lysis resistance assay for screening. Several patients with anti‐Jk3 were also encountered in Guangzhou .…”

Section: Genotyping Studies For the Null Phenotypes Of Rbcsmentioning

confidence: 66%

“…At least 50 probands with JK(a‐b‐) phenotype were identified in the Chinese population for JK genotyping analysis (Table ) . Among them, nine mutations of JK gene were found, in which seven mutations occured on the JK*B allele and two on the JK*A allele.…”

Section: Genotyping Studies For the Null Phenotypes Of Rbcsmentioning

confidence: 99%

“…Further, the urea lysis resistance method is a very cheap and feasible method that could be used for screening the JK (a-b-) blood on a large scale. At least 50 probands with JK(a-b-) phenotype were identified in the Chinese population for JK genotyping analysis ( Table 6) [99][100][101][102][106][107][108][109]. Among them, nine Table 5 The distribution of the reported FUT2 genotypes in the Chinese individuals with para-Bombay phenotype…”

Section: Fut1 Fut1 and Fut2 Fut2 Genotyping In Para-bombay Individualsmentioning

confidence: 99%

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Red blood cell genotyping in China

Schoot

2016

ISBT Science Series

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The common antigens of ABO, Rh, MNS, Duffy, Kidd, Diego, Yt and Dombrock blood group systems have a polymorphic distribution in the Chinese population. The Mur antigen and anti‐Mur are more common in the Chinese Han and some minority groups in the southern region of China. Except for the common ABO alleles (A101, A102, B101, O01 and O02), more than 100 new alleles have been reported in the Chinese population, in which the effect of many critical mutations on the variant expression of A and B antigens still needs to be investigated. For RHD genotyping, only 6% of Chinese D+ people were heterozygous for the RHD gene with Dd genotype. Compared with the complete deletion of the RHD gene accounting for D‐ phenotype in the Caucasian population, 20–40% of the Chinese individuals with D‐ phenotype carry RHD variant alleles. Among them, ‘Asian type’ DEL allele (RHD*DEL1 defined by 1227G>A, Lys409Lys) is the most common variant and is classified as D‐, and it can only be identified by absorption/elution testing, which is not routinely conducted. Several studies indicated that the Chinese pregnant women with ‘Asian type’ DEL allele were not immunized by the incompatible pregnancy, which suggested that the ‘Asian type’ DEL recipient could receive D+ blood safely. Weak D type 15 and DVI type 3 are the most common RHD variant alleles, accounting for more than 70% of RhD variants in the Chinese population. In addition, the genotyping analysis for the rare null phenotypes, including the para‐Bombay, Jk(a‐b‐), Lu(a‐b‐), p, Rhnull and KELnull phenotypes, are also summarized.

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Section: Genotyping Studies For the Null Phenotypes Of Rbcsmentioning

confidence: 66%

Section: Genotyping Studies For the Null Phenotypes Of Rbcsmentioning

confidence: 99%

Section: Fut1 Fut1 and Fut2 Fut2 Genotyping In Para-bombay Individualsmentioning

confidence: 99%

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Red blood cell genotyping in China

Schoot

2016

ISBT Science Series

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“…Blood group system tables found on the ISBT website detail the recognized alleles [17]. Additional silencing alleles are found in other reports [18][19][20][21][22]. The two alleles found in Polynesian and Finnish populations are the most common.…”

Section: Genetics Of Jk Systemmentioning

confidence: 99%

Kidd blood group system: outwardly simple with hidden complexity

Hamilton

2018

ISBT Science Series

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The basics of the Kidd blood group system have been well described. Two of the three antigens, Jka and Jkb, are polymorphic. The third, Jk3, is of very high prevalence in all populations except in individuals of Polynesian and Finnish extraction. Jk (a−b−) red cells do not express Jk3. The antigens are encoded by SLC14A1 gene on chromosome 18. JK*01 allele differs from JK*02 at nt 838 (G/A) and in the protein, at amino acid 280, Jka expression is associated with aspartate and asparagine is associated with Jkb. The genetic background of the dominantly inherited In(Jk) Jk(a−b−) is due to an 84 bp deletion in ZFN850 on chromosome 19. Antibodies against all three antigens are clinically important. They can cause immediate haemolytic transfusion reactions and are a frequent cause of delayed transfusion reactions. Haemolytic disease of the foetus and newborn due to JK antibodies is generally much less severe than the response to incompatible transfusion. The JK protein on red cells functions as a urea transporter. Complexity in the system is due to the number of alternate alleles described. ISBT recognizes 24 alleles that silence Jka/Jkb expression and 7 alleles causing weak or partial expression of Jka or Jkb. These alleles can result in serological typing discrepancies, discordant serological/molecular results and production of an apparent Kidd alloantibody by an antigen‐positive individual. JK antigens may serve as minor histocompatibility antigens. The antibodies may play a role in renal graft survival when a JK‐incompatible donor kidney is transplanted.

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“…The most common JK‐null phenotype is due to skipping of Exon 6 ( JK*02N.01 ), originally reported in a Chinese patient and later recognized in a patient of Polynesian ethnicity . Eight different silencing alleles have been reported in Chinese persons, with 24 JK silencing alleles currently recorded through the International Society of Blood Transfusion (ISBT).…”

mentioning

confidence: 99%